LOVD - Variant listings for SPRED1

About this overview [Show]

153 entries
entries per page

Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

RNA change Hide RNA change column Descending
Ascending

Protein Hide Protein column Descending
Ascending

Domains Hide Domains column Descending
Ascending

Type Hide Type column Descending
Ascending

Variant predicted effect Hide Variant predicted effect column Descending
Ascending

Genetic origin Hide Genetic origin column Descending
Ascending

Technique Hide Technique column Descending
Ascending

Tissue Hide Tissue column Descending
Ascending

Template Hide Template column Descending
Ascending

DB-ID Hide DB-ID column Descending
Ascending

Reference Hide Reference column Descending
Ascending

Variant remarks Hide Variant remarks column Descending
Ascending

do not use Hide do not use column Descending
Ascending

Evol cons in C. jacchus Hide Evol cons in C. jacchus column Descending
Ascending

Evol cons in M. musculus Hide Evol cons in M. musculus column Descending
Ascending

Evol cons in R. norvegicus Hide Evol cons in R. norvegicus column Descending
Ascending

Evol cons in B. taurus Hide Evol cons in B. taurus column Descending
Ascending

Evol cons in O. cuniculus Hide Evol cons in O. cuniculus column Descending
Ascending

Evol cons in X. tropicalis Hide Evol cons in X. tropicalis column Descending
Ascending

Evol cons in D. rerio Hide Evol cons in D. rerio column Descending
Ascending

Evol cons in D. melanogaster Hide Evol cons in D. melanogaster column Descending
Ascending

PC12 functional assay Hide PC12 functional assay column Descending
Ascending

ELK1 functional assay Hide ELK1 functional assay column Descending
Ascending
prom-1 c.1-845-?_c.32+8517+?del r.0? p.0? EVH-1 CNC CNC unknown MLPA blood DNA and RNA SPRED1_00098 Messiaen UAB, unpublished novel mutation ~9.4-41.4kb deletion unknown not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
prom-1 c.1-800-?_c.32+?del r.0? p.0? EVH-1 CNC CNC familial MLPA and arrayCGH blood DNA and RNA SPRED1_00084 Spencer 2011 deletion with minimum size of 111; maximum size of 203.8 kb; phenotype of affected parent and sibling of the proband described in Spencer 2011 familial not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
1 c.2T>C r.(?) p.(?) - substitution ? familial gDNA SEQ blood DNA SPRED1_00002 Pasmant 2009 phenotype of affected parent and 2 siblings of the proband described in Pasmant 2009 familial not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
1 c.7G>T r.(?) p.(Glu3*) - substitution nonsense familial gDNA SEQ blood DNA SPRED1_00005 Messiaen 2009 phenotype of affected parent of the proband described in Messiaen 2009 familial not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
1 c.7_20delGAGGAGACGGCGAC r.(?) p.(Glu3Phefs*2) EVH-1 deletion frameshift familial gDNA SEQ blood DNA SPRED1_00004 Messiaen 2009 phenotype of affected parent of the proband described in Messiaen 2009 familial not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
1 c.18delG r.(?) p.(Thr7Leufs*15) EVH-1 deletion frameshift de novo gDNA SEQ blood DNA SPRED1_00102 Messiaen UAB, unpublished novel mutation novel de novo not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
1 c.22delT r.(?) p.(Ser8Leufs*14) EVH-1 deletion truncating unknown gDNA SEQ blood DNA SPRED1_00139 Messiaen UAB, unpublished novel mutation novel unknown not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
1 c.26A>T
  (Reported 4 times)
r.26a>u p.Asp9Val EVH-1 substitution missense unknown cDNA SEQ and gDNA SEQ blood DNA and RNA SPRED1_00001 Brems et al, 2012 dbSNP: rs200157475 unknown yes yes yes yes no yes no yes not available not available
1 c.27C>A r.(?) p.(Asp9Glu) EVH-1 Substitution missense familial gDNA SEQ blood DNA SPRED1_00134 Trevisson, University of Padova, unpublished novel mutation - familial yes yes yes yes no yes no unknown not available not available
1 c.30C>A
  (Reported 2 times)
r.30c>a p.Asn10Lys EVH-1 substitution missense unknown cDNA SEQ and gDNA SEQ blood DNA and RNA SPRED1_00003 Brems et al, 2012 dbSNP: rs201692618 unknown yes yes yes yes no yes yes no not available not available
1 c.32+2T>C r.spl? p.(?) EVH-1 substitution splicing? familial gDNA SEQ and MLPA blood DNA and RNA SPRED1_00117 Messiaen UAB, unpublished novel mutation novel familial not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
1 c.32+43A>G r.= p.= EVH-1 substitution likely silent intronic variant de novo cDNA SEQ and gDNA SEQ blood DNA and RNA SPRED1_00118 - dbSNP: rs189604029 sporadic not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
2-6 c.33-20604_684+401delinsGAAA r.33_684del p.Asp11Glufs*4 EVH-1 CNC CNC familial cDNA SEQ and gDNA SEQ and MLPA blood DNA and RNA SPRED1_00082 Spencer 2011 71 kb deletion; phenotype of affected parent of the proband described in Spencer 2011 familial not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
2-4 c.33-17014_423+568delins5 r.(?) p.(Asn12Profs*17) EVH-1 CNC CNC familial gDNA SEQ and MLPA blood DNA SPRED1_00103 Messiaen UAB, unpublished novel mutation 43 kb deletion familial not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
2-4 c.33-5928-?_423+19+?del r.33_423del p.Asn12Profs*17 EVH-1 CNC CNC unknown cDNA SEQ and gDNA SEQ and MLPA blood DNA and RNA SPRED1_00094 Messiaen UAB, unpublished novel mutation ~31.4-73.7kb deletion unknown not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
2 c.42T>C r.= p.= EVH-1 substitution silent unknown cDNA SEQ and gDNA SEQ blood DNA SPRED1_00010 Messiaen 2009 - unknown not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
2 c.46C>T
  (Reported 10 times)
r.46c>u p.Arg16* EVH-1 substitution nonsense familial gDNA SEQ blood DNA SPRED1_00011 Pasmant 2009 description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S56; UAB-S81; UAB-S89-2); phenotype of affected parent and 1 sibling of the proband described in Pasmant 2009; no additional second somatic mutation found in the tumor cells of the proband familial not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
2 c.52C>T
  (Reported 8 times)
r.52c>u p.Arg18* EVH-1 substitution nonsense de novo gDNA SEQ blood DNA SPRED1_00012 Messiaen 2009 description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S45; UAB-S59; UAB-S86; UAB-S94) de novo not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
2 c.60_61insC r.(?) p.(Val21Argfs*6) EVH-1 insertion frameshift unknown (father unavailable) gDNA SEQ blood DNA SPRED1_00013 Messiaen 2009 - unknown (father unavailable) not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
2 c.70C>T
  (Reported 10 times)
r.70c>u p.Arg24* EVH-1 substitution nonsense familial gDNA SEQ blood DNA SPRED1_00014 Brems 2007 description of c.70C>T at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S63; UAB-S73; UAB-S90-2; UAB-S109) - In addition, melanocytes, cultured from a cafe-au-lait macule of this patient were analyzed and c.304dupA was found to be the second hit found in the melanocytes in patient Brems-UZL2 carrying c.70C>T (p.Arg24*) as the germline mutation; description of c.304dupA at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S66); phenotype of 6 affected relatives is debribed in Brems 2007 familial not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
2 c.71G>A
  (Reported 2 times)
r.71g>a p.Arg24Gln EVH-1 substitution missense unknown cDNA SEQ and gDNA SEQ blood DNA and RNA SPRED1_00015 Spencer 2011 - unknown yes yes yes yes yes yes yes yes not available not available
2 c.87_88dup r.87_88dup p.Gly30Valfs*11 EVH-1 duplication frameshift unknown cDNA SEQ and gDNA SEQ blood DNA and RNA SPRED1_00016 Spencer 2011 S54 - unknown not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
2 c.88G>A r.88g>a p.Gly30Arg EVH-1 substitution missense unknown cDNA SEQ and gDNA SEQ blood DNA and RNA SPRED1_00017 Spencer 2011 S46 - unknown yes yes yes yes yes yes yes yes not available not available
2 c.91T>A r.91u>a p.Trp31Arg EVH-1 substitution missense de novo gDNA SEQ blood DNA SPRED1_00140 Messiaen UAB, unpublished novel mutation - familial yes yes yes yes yes yes yes yes not available not available
2 c.92G>T r.92g>u p.Trp31Leu EVH-1 substitution missense unknown cDNA SEQ and gDNA SEQ blood DNA and RNA SPRED1_00119 Messiaen UAB, unpublished novel mutation novel unknown yes yes yes yes yes yes yes yes not available not available
2 c.93G>T
  (Reported 3 times)
r.(?) p.(Trp31Cys) EVH-1 substitution missense unknown gDNA SEQ blood DNA SPRED1_00018 Denayer 2011a - de novo yes yes yes yes yes yes yes yes not available not available
2 c.107_110delGGAG r.107_110del p.Gly36Valfs*3 EVH-1 deletion frameshift unknown cDNA SEQ and gDNA SEQ blood DNA and RNA SPRED1_00096 Messiaen UAB, unpublished novel mutation novel unknown not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
2 c.108delG r.(?) p.(Ser37Valfs*3) EVH-1 deletion frameshift unknown gDNA SEQ and MLPA blood DNA SPRED1_00120 Messiaen UAB, unpublished novel mutation novel unknown not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
2 c.124G>A
  (Reported 3 times)
r.124g>a p.Val42Ile EVH-1 substitution missense unknown cDNA SEQ and gDNA SEQ blood DNA and RNA SPRED1_00006 Spencer 2011 dbSNP: rs147204964 unknown yes yes yes yes yes yes yes yes not available not available
2 c.131T>A r.(?) p.(Val44Asp) EVH-1 substitution missense familial gDNA SEQ blood DNA SPRED1_00007 Spurlock 2009 phenotype of affected son and 2 grandchildren of proband described in Spurlock 2009 dbSNP: rs121434318 familial yes yes yes yes yes yes yes no not available not available
2 c.148C>T
  (Reported 3 times)
r.148c>u p.(Gln50*) EVH-1 substitution nonsense unknown cDNA SEQ and gDNA SEQ blood DNA and RNA SPRED1_00008 Brems et al, 2012 dbSNP: rs148646547 unknown not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
2 c.177delT r.(?) p.(Phe59Leufs*62) EVH-1 deletion truncating familial gDNA SEQ blood DNA SPRED1_00141 Messiaen UAB, unpublished novel mutation novel familial not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
2 c.190C>T
  (Reported 7 times)
r.190c>u p.Arg64* EVH-1 substitution nonsense unknown gDNA SEQ blood DNA SPRED1_00009 Brems 2007 description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S113) unknown not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
2 c.207+1G>T r.33_207del p.Asp11Glufs*52 EVH-1 substitution splicing familial cDNA SEQ and gDNA SEQ blood DNA and RNA SPRED1_00100 Messiaen UAB, unpublished novel mutation novel familial not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
2 c.207+18T>C r.(?) p.(?) EVH-1 substitution VUS, no effect on splicing de novo gDNA SEQ blood DNA SPRED1_00142 Messiaen UAB, unpublished novel mutation novel unknown not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
3 c.217G>T r.(?) p.(Glu73*) EVH-1 substitution nonsense familial gDNA SEQ blood DNA SPRED1_00019 Spurlock 2009 phenotype of affected child of proband described in Spurlock 2009 familial not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
3 c.221G>T r.(?) p.(Cys74Phe) EVH-1 substitution missense unknown gDNA SEQ blood DNA SPRED1_00020 Messiaen 2009 - unknown yes yes yes yes yes yes yes yes behaves as wild-type behaves as wild-type
3 c.229A>T r.(?) p.(Lys77*) EVH-1 substitution nonsense familial gDNA SEQ and MLPA blood DNA SPRED1_00121 Messiaen UAB, unpublished novel mutation novel familial not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
3 c.239T>G r.239u>g p.Leu80Arg EVH-1 substitution missense unknown cDNA SEQ and gDNA SEQ blood DNA and RNA SPRED1_00021 Spencer 2011 - unknown yes yes yes yes yes yes yes yes not available not available
3 c.242_256delTTTATAATAAGGTCA r.(?) p.(Ile81_Val85del) EVH-1 deletion in frame deletion de novo gDNA SEQ blood DNA SPRED1_00022 Brems 2007 5 amino acid deletion: Y82, K84 and V85 are evolutionary conserved de novo not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable defect not available
3 c.263C>A r.(?) p.(Thr88Lys) EVH-1 substitution missense familial gDNA SEQ blood DNA SPRED1_00104 Messiaen UAB, unpublished novel mutation novel familial yes yes yes yes yes yes no yes not available not available
3 c.269delA r.269dela p.His90Profs*31 EVH-1 deletion frameshift unknown cDNA SEQ and gDNA SEQ blood DNA and RNA SPRED1_00091 Brems et al, 2012 - unknown not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
3 c.270C>G r.(270c>g) p.(His90Gln) EVH-1 substitution missense familial gDNA SEQ blood DNA SPRED1_00143 Messiaen UAB, unpublished novel mutation - familial yes yes yes yes yes yes yes yes not available not available
3 c.271delC r.(?) p.(His91Thrfs*30) EVH-1 deletion frameshift unknown gDNA SEQ blood DNA SPRED1_00092 Messiaen 2009 - unknown not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
3 c.274T>C r.274u>c p.Trp92Arg EVH-1 substitution missense familial cDNA SEQ and gDNA SEQ and MLPA blood DNA and RNA SPRED1_00105 Messiaen UAB, unpublished novel mutation novel familial yes yes yes yes yes yes yes yes not available not available
3 c.283delG r.(?) p.(Asp95Metfs*26) EVH-1 deletion truncating unknown gDNA SEQ blood DNA SPRED1_00144 Messiaen UAB, unpublished novel mutation - unknown not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
3 c.299G>A r.299g>a p.Gly100Asp EVH-1 substitution missense unknown cDNA SEQ and gDNA SEQ blood DNA and RNA SPRED1_00093 Brems et al, 2012 - unknown yes yes yes yes yes yes yes yes not available not available
3 c.303dupT r.(?) p.(Thr102Tyrfs*7) EVH-1 duplication frameshift unknown gDNA SEQ blood DNA SPRED1_00106 Messiaen UAB, unpublished novel mutation novel unknown not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
3 c.304dupA
  (Reported 3 times)
r.304dupa p.Thr102Asnfs*7 EVH-1 duplication frameshift unknown gDNA SEQ blood DNA SPRED1_00023 Spencer 2011 description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S66) unknown not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
3 c.305C>A
  (Reported 2 times)
r.305c>a p.Thr102Lys EVH-1 substitution missense unknown cDNA SEQ and gDNA SEQ blood DNA and RNA SPRED1_00024 Spencer 2011 - unknown yes yes yes yes yes yes yes yes not available not available
3 c.305C>G r.(?) p.(Thr102Arg) EVH-1 substitution missense familial gDNA SEQ blood DNA SPRED1_00025 Messiaen 2009 phenotype of affected parent of the proband described in Messiaen 2009 familial yes yes yes yes yes yes yes yes defect defect
3 c.305C>T r.305c>u p.Thr102Met EVH-1 substitution missense unknown cDNA SEQ and gDNA SEQ blood DNA and RNA SPRED1_00026 Spencer 2011 - unknown yes yes yes yes yes yes yes yes not available not available
3 c.305delC r.305delc p.Thr102Serfs*19 EVH-1 deletion frameshift unknown cDNA SEQ and gDNA SEQ blood DNA and RNA SPRED1_00027 Spencer 2011 - unknown not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
3 c.320_333delCTGATGCTAGGGCT r.(?) p.(Ala107Valfs*2) EVH-1 deletion frameshift familial gDNA SEQ blood DNA SPRED1_00028 Messiaen 2009 phenotype of 2 affected relatives of the proband described in Messiaen 2009 familial not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
3 c.326_329dupCTAG
  (Reported 4 times)
r.326_329dup p.Arg110Serfs*2 EVH-1 duplication frameshift unknown gDNA SEQ blood DNA SPRED1_00029 Messiaen 2009 description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S48) unknown not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
3 c.331dupG r.(?) p.(Ala111fs) EVH-1 duplication frameshift unknown gDNA SEQ Blood DNA SPRED1_00135 Pasmant 2014 - sporadic not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
3 c.340dupA r.(?) p.(Arg114Lysfs*20) EVH-1 duplication frameshift unknown gDNA SEQ and MLPA blood DNA SPRED1_00122 Messiaen UAB, unpublished novel mutation novel unknown not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
3 c.347T>A r.347u>a p.Ile116Asn EVH-1 substitution missense unknown cDNA SEQ and gDNA SEQ and MLPA blood DNA and RNA SPRED1_00095 Messiaen UAB, unpublished novel mutation novel unknown yes yes yes yes yes yes yes no not available not available
3 c.349C>T
  (Reported 13 times)
r.349c>u p.Arg117* EVH-1 substitution nonsense familial gDNA SEQ blood DNA SPRED1_00030 Brems 2007 description at protein and RNA level is inferred from the data obtained in unrelated patients carrying the same germline mutation and studied at the DNA and RNA level (pt-ID UAB-S47; UAB-S60; UAB-S116); phenotype of 20 affected relatives of the proband described in Brems 2007 familial not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
3 c.360dupA r.(?) p.(Glu121Argfs*13) EVH-1 duplication frameshift unknown gDNA SEQ blood DNA SPRED1_00031 Denayer 2011a, family 9 proband also has marfan syndrome, FBN1 mutation positive. unknown not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
3 c.361delG r.(?) p.(Glu121Argfs*31) EVH-1 deletion frameshift de novo gDNA SEQ and MLPA blood DNA SPRED1_00123 Messiaen UAB, unpublished novel mutation novel sporadic not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
3 c.375delA r.(?) p.(Gln125fs) - Deletion frameshift unknown gDNA SEQ Blood DNA SPRED1_00136 Pasmant 2014 - unknown not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
3i c.377-31A>G r.= p.= - substitution VOUS, likely benign, no effect on splicing de novo gDNA SEQ and MLPA blood DNA SPRED1_00124 Messiaen UAB, unpublished novel mutation novel sporadic not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
I3 c.377-10A>G r.(?) p.(?) - substitution VUS, likely benign, no effect on splicing unknown cDNA SEQ and gDNA SEQ blood DNA and RNA SPRED1_00145 Messiaen UAB, unpublished novel mutation - unknown not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
3i c.377-9T>G r.(spl?) p.(?) - substitution likely splice familial gDNA SEQ blood DNA SPRED1_00107 Messiaen UAB, unpublished novel mutation novel familial not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
3i c.377-2G>A r.377_423del p.Cys127Lysfs*2 - substitution splicing unknown cDNA SEQ and gDNA SEQ blood DNA and RNA SPRED1_00080 Brems et al, 2012 - unknown not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
3'UTR c.*83A>G r.(?) p.? - substitution unknown unknown gDNA SEQ blood DNA SPRED1_00138 Messiaen UAB, unpublished novel mutation - sporadic not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
prom-4 c.1-1175-?_423+19+?del r.0? p.0? EVH-1 CNC CNC unknown MLPA and arrayCGH blood DNA and RNA SPRED1_00083 Brems et al, 2012 this patient also carries a duplication on 15q26.1 encompassing at least 857kb including 18 annotated genes (aCGH) unknown not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
4 c.381C>A r.(?) p.(Cys127*) - substitution nonsense unknown gDNA SEQ blood DNA SPRED1_00108 Messiaen UAB, unpublished novel mutation novel unknown not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
4 c.389C>A r.(?) p.(Ser130*) - substitution nonsense familial gDNA SEQ blood DNA SPRED1_00109 Messiaen UAB, unpublished novel mutation novel familial not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
4 c.389C>G
  (Reported 2 times)
r.(?) p.(Ser130*) - Substitution Nonsense unknown gDNA SEQ Blood DNA SPRED1_00137 Pasmant 2014 - sporadic not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
4 c.395dupA r.(?) p.(Asn132Lysfs*2) - duplication frameshift unknown gDNA SEQ blood DNA SPRED1_00110 Messiaen UAB, unpublished novel mutation novel unknown not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
4i c.423+1G>A r.377_423del p.Cys127Lysfs*2 - substitution splicing familial cDNA SEQ and gDNA SEQ blood DNA and RNA SPRED1_00081 Brems 2007 phenotype of 3 affected children of the proband described in Brems 2007 familial not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
4i c.423+5G>A r.378_423+1del p.Cys127Glnfs*10 - substitution skipping E4 familial cDNA SEQ and gDNA SEQ blood DNA and RNA SPRED1_00125 Messiaen UAB, unpublished novel mutation novel familial not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
4i c.424-14G>A r.(?) p.(?) - substitution VUS - likely benign de novo gDNA SEQ and MLPA blood DNA SPRED1_00126 Messiaen UAB, unpublished novel mutation novel sporadic not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
5'UTR c.-24A>G r.(?) p.? - substitution unknown unknown gDNA SEQ blood DNA SPRED1_00158 Messiaen UAB, unpublished novel mutation - unknown not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
5 c.426A>G r.(?) p.(Ala142Ala) - substitution silent de novo gDNA SEQ and MLPA blood DNA SPRED1_00127 Messiaen UAB, unpublished novel mutation novel sporadic not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable not available not available
5 c.446G>A
  (Reported 3 times)
r.446g>a p.Ser149Asn - substitution missense unknown gDNA SEQ blood DNA SPRED1_00032 Brems 2007 description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline alteration and studied at the DNA and RNA level (pt-ID UAB-S65/UAB-SB1) unknown yes no no yes no yes no no behaves as wild-type not available
5 c.460_463dupGATC r.(?) p.(His155Argfs*13) - duplication frameshift familial gDNA SEQ blood DNA SPRED1_00033 Laycock-van Spyk 2011 - familial not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
5 c.468_469insGA
  (Reported 2 times)
r.468_469insga p.Phe157Aspfs*18 - insertion frameshift unknown gDNA SEQ blood DNA SPRED1_00034 Messiaen 2009 description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline alteration and studied at the DNA and RNA level (pt-ID UAB-S51)) unknown not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
5 c.475C>T
  (Reported 2 times)
r.475c>u p.Gln159* - substitution nonsense de novo gDNA SEQ blood DNA SPRED1_00035 Laycock-van Spyk 2011 description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline alteration and studied at the DNA and RNA level (pt-ID UAB-S126) sporadic not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
5 c.493delA r.493dela p.Ser165Valfs*9 - deletion frameshift unknown cDNA SEQ and gDNA SEQ blood DNA and RNA SPRED1_00036 Spencer 2011 - unknown not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
5 c.511T>C r.511u>c p.Ser171Pro - substitution missense unknown gDNA SEQ blood DNA SPRED1_00147 Messiaen UAB, unpublished novel mutation - unknown yes yes yes yes yes yes yes yes not available not available
5 c.564G>A
  (Reported 2 times)
r.(?) p.(Met188Ile) - substitution missense unknown gDNA SEQ blood DNA SPRED1_00037 Messiaen 2009 dbSNP: rs202092705 unknown yes no no no no no no no behaves as wild-type not available
5 c.576_580dupCAATC r.(?) p.(Gln194Profs*4) - duplication frameshift familial gDNA SEQ blood DNA SPRED1_00038 Denayer 2011a phenotype of 3 affected siblings of the proband described in Denayer 2011a familial not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
5 c.580C>T r.(?) p.(Gln194*) - substitution nonsense NA gDNA SEQ blood DNA SPRED1_00039 Muram-Zborovski 2010 - NA not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
5i c.583-7A>G
  (Reported 2 times)
r.= p.= - substitution likely silent intronic variant NA gDNA SEQ blood DNA SPRED1_00111 dbSNP: rs115970207 description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline alteration and studied at the DNA and RNA level (pt-ID UAB-SB) dbSNP: rs115970207 NA not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
6-7 c.583-2851-?_*80+?del r.(?) p.(?) - deletion CNC familial gDNA SEQ and MLPA blood DNA SPRED1_00128 Messiaen UAB, unpublished novel mutation novel, 5.2kb->11.9kb deletion familial not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
6 c.587C>T
  (Reported 3 times)
r.587c>u p.Thr196Ile - substitution missense unknown gDNA SEQ blood DNA SPRED1_00040 Messiaen 2009 description at protein and RNA level is inferred from the data obtained in an unrelated patient carrying the same germline alteration and studied at the DNA and RNA level (pt-ID UAB-S92-2) dbSNP: rs147474792 unknown no no no no yes no no no behaves as wild-type behaves as wild-type
6 c.605T>A r.(?) p.(Leu202*) - substitution nonsense de novo gDNA SEQ blood DNA SPRED1_00041 Messiaen 2009 - de novo not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
6 c.634G>A
  (Reported 3 times)
r.634g>a p.Val212Ile - substitution missense unknown cDNA SEQ and gDNA SEQ blood DNA and RNA SPRED1_00042 Spencer 2011 - unknown yes yes yes no yes no no no not available not available
6 c.637C>T r.(?) p.(Gln213*) - substitution nonsense familial gDNA SEQ blood DNA SPRED1_00043 Pasmant 2009 phenotype of 6 affected first- and second-degree relatives of the proband described in Pasmant 2009 familial not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
6 c.643C>T r.(?) p.(Gln215*) - substitution nonsense familial gDNA SEQ blood DNA SPRED1_00044 Brems 2007 phenotype of 2 affected children of the proband described in Brems 2007 familial not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
6 c.667delC r.667delc p.(Leu223*) - deletion nonsense unknown cDNA SEQ and gDNA SEQ blood DNA and RNA SPRED1_00045 Spencer 2011 - unknown not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
6 c.673delT r.673delu p.(Ser225Profs*7) - deletion truncating unknown gDNA SEQ blood DNA SPRED1_00148 Messiaen UAB, unpublished novel mutation - NA not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
6 c.675C>T r.(?) p.(Ser225Ser) - substitution silent de novo gDNA SEQ and MLPA blood DNA SPRED1_00129 dbSNP: rs144764225 dbSNP: rs144764225 sporadic yes yes yes yes no no no no not available not available
7 c.698C>A r.698c>a p.Ser233* - substitution nonsense familial gDNA SEQ blood DNA SPRED1_00149 Messiaen UAB, unpublished novel mutation - familial not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
7 c.700dupA r.700dupa p.Ile234Asnfs*9 KBD duplication frameshift unknown cDNA SEQ and gDNA SEQ blood DNA and RNA SPRED1_00063 Messiaen UAB, unpublished novel mutation novel unknown not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
7 c.700_703delATCA r.(?) p.(Ile234Aspfs*14) KBD deletion frameshift de novo cDNA SEQ and gDNA SEQ blood DNA and RNA SPRED1_00064 Messiaen 2009 - de novo not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -
7 c.702C>G
  (Reported 2 times)
r.(?) p.(Ile234Met) KBD substitution missense unknown gDNA SEQ and MLPA blood DNA SPRED1_00130 dbSNP: rs138553244 dbSNP: rs138553244 unknown yes yes yes yes yes yes no no not available not available
1 - 100
[<-] 1 2 [->]


Legend: [ SPRED1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Exon: Exon/Intron numbering. DNA change: DNA change RNA change: RNA change Protein: description of variant at protein level, following HGVS recommendations; e.g. p.(Arg345Pro) = (RNA not analysed, change predicted from DNA), p.Arg345Pro (protein change predicted from RNA), p.0 (no protein produced), p.? (unknown effect) Domains: Variant's domain location Type: Type of variant at DNA level. Variant predicted effect: Predicted molecular effect Genetic origin: origin of variant, unknown, germline (i.e. inherited), somatic, de novo or from parental disomy (maternal or paternal) Technique: Technique Tissue: Tissue type the variant was detected in. Template: Template SPRED1 DB-ID: the ID starts with the HGNC gene symbol followed by an underscore (_) and ends with a five digit ID code Reference: Reference = publication describing variant submitted, incl. links to OMIM and dbSNP (when available); format {PMID[1]:[2]} (where [1] = PubMedID, [2] = e.g. den Dunnen 2007) or "den Dunnen ASHG2003 P2346". NOTE: not the reference to another report describing this variant. Variant remarks: Variant remarks do not use: do not use Evol cons in C. jacchus: Evol cons in C. jacchus (XP_002753607.1) Evol cons in M. musculus: Evol cons in M. musculus (NP_277059.1) Evol cons in R. norvegicus: Evol cons in R. norvegicus (NP_001040554.1) Evol cons in B. taurus: Evol cons in B. taurus (XP_598113.3) Evol cons in O. cuniculus: Evol cons in O. cuniculus (XP_002717848.1) Evol cons in X. tropicalis: Evol cons in X. tropicalis (Q66JG9.1) Evol cons in D. rerio: Evol cons in D. rerio (NP_998397.1) Evol cons in D. melanogaster: Evol cons in D. melanogaster (NP_610988.1) PC12 functional assay: PC12 functional assay ELK1 functional assay: ELK1 functional assay