LOVD-USHBases

LOVD - Variant listings for CLRN1

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Exon Hide Exon column Descending
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DNA change   Descending
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RNA change Hide RNA change column Descending
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Variant remarks Hide Variant remarks column Descending
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Exon 01 c.-290G>A r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - - +EarI;+MboII;-BseRI;-MnlI; CLRN1_00028 g.150690785C>T
Exon 01 c.-91C>T r.(=) p.(=) - Heterozygous UV1 rs73155722 Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - - +AlwNI CLRN1_00024 g.150690586G>A
Exon 01 c.6A>C
  (Reported 2 times)
r.(?) p.(=) - Heterozygous Neutral rs111033422 Le Quesne Stabej et al., 2012 Neutral 4/844 controls - HSF +BseYI CLRN1_00027 g.150690490T>G
Exon 01 c.19A>C
  (Reported 2 times)
r.(?) p.(Lys7Gln) - Homozygous UV3 - Jiang et al., 2015 mutation - USMA MSV3d HSF - CLRN1_00041 g.150690477T>G
Exon 01 c.67G>T
  (Reported 2 times)
r.(?) p.(Gly23*) Transmembrane 1 (8-28) Homozygous Pathogenic - Besnard, Garcia-Garcia et al., 2014 - - - HSF +BspCNI;+DdeI; CLRN1_00035 g.150690429C>A
Exon 01 c.92C>T
  (Reported 12 times)
r.(?) p.(Pro31Leu) - Homozygous UV4 - Khan et al., 2011 Pathogenic 0/180 controls USMA MSV3d HSF +TspRI CLRN1_00020 g.150690404G>A
Exon 01 c.118T>G
  (Reported 2 times)
r.(?) p.(Cys40Gly) - Homozygous Pathogenic rs121908143 Aller et al., 2004 - 0/192 controls USMA MSV3d HSF - CLRN1_00011 g.150690378A>C
Exon 01 c.126G>A
  (Reported 2 times)
r.(?) p.(=) - Heterozygous UV1 rs151049166 Le Quesne Stabej et al., 2012 UV1 0/96 controls - HSF none CLRN1_00026 g.150690370C>T
Exon 01 c.144T>G
  (Reported 82 times)
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Isosomppi et al., 2009 - - USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C
Exon 01 c.149_152delCAGG
  (Reported 8 times)
r.(?) p.(Ser50Cysfs*21) - Heterozygous Pathogenic - Ebermann et al., 2007(2) - - - HSF - CLRN1_00003 g.150690344_150690347delCCTG
Exon 01 c.149_152delCAGGinsTGTCCAAT
  (Reported 3 times)
r.(?) p.(Ser50Leufs*12) - Homozygous Pathogenic - Le Quesne Stabej et al., 2012 Pathogenic 0/96 controls - HSF +HpyCH4V;-MnlI;-DdeI;-BspCNI;-Bsu36I; CLRN1_00022 g.150690344_150690347delinsATTGGACA
Exon 01 c.161T>C r.(?) p.(Leu54Pro) - Heterozygous - - Isosomppi et al., 2009 - 0/90 controls USMA MSV3d HSF - CLRN1_00008 g.150690335A>G
Exon 01 c.165delC
  (Reported 6 times)
r.(?) p.(Asp55Glufs*17) - Heterozygous Pathogenic - Fields et al., 2002 - 0/200 controls - HSF - CLRN1_00013 g.150690331delG
Exon 01 c.176del r.(?) p.(Gly59Valfs*13) - Heterozygous Pathogenic {dbSNP773036590 } mutation - - HSF - CLRN1_00207 g.150690320del
Exon 01 c.187_209del
  (Reported 4 times)
r.(?) p.(Tyr63Cysfs*59) - Homozygous Pathogenic - Adato et al., 2002 - 0/198 controls - HSF - CLRN1_00010 g.150690287_150690309del
Exon 01 c.189C>A
  (Reported 9 times)
r.(?) p.(Tyr63*) - Homozygous Pathogenic rs111033267 Adato et al., 2002 - 0/134 controls - HSF - CLRN1_00009 g.150690307G>T
Exon 01 c.190G>A r.(?) p.(Gly64Arg) - Heterozygous UV3 - Jiang et al., 2015 mutation - USMA MSV3d HSF - CLRN1_00039 g.150690306C>T
Exon 01 c.191G>C
  (Reported 2 times)
r.(?) p.(Gly64Ala) - Homozygous UV3 - Jiang et al., 2015 mutation - USMA MSV3d HSF - CLRN1_00040 g.150690305C>G
Exon 01 c.218A>G r.(?) p.(Gln73Arg) - Heterozygous UV2 rs201008540 Licastro et al., 2012 - - USMA MSV3d HSF - CLRN1_00038 -
Exon 01 c.227dup
  (Reported 2 times)
r.(?) p.(Leu76Phefs*54) - Homozygous Pathogenic - Bonnet et al., 2016 mutation - - HSF - CLRN1_00208 g.150690269dup
Exon 01 c.230dup
  (Reported 2 times)
r.(?) p.(Ala78Serfs*52) - Homozygous Pathogenic - Bonnet et al., 2016 mutation - - HSF - CLRN1_00206 g.150690266dup
Exon 01 c.230G>A
  (Reported 2 times)
r.(?) p.(Gly77Glu) - Homozygous UV3 - Bonnet et al., 2016 mutation - USMA MSV3d HSF - CLRN1_00209 g.150690266C>T
Exon 02 c.301_305del
  (Reported 4 times)
r.(?) p.(Val101Serfs*27) Transmembrane 2 (101-121) Homozygous Pathogenic - Akoury et al., 2011 Pathogenic 0/186 controls - HSF +Tsp509I;-MslI; CLRN1_00018 g.150659497_150659501del
Exon 02 c.313T>C
  (Reported 4 times)
r.(?) p.(Ser105Pro) Transmembrane 2 (101-121) Homozygous Pathogenic - Sadeghi et al., 2005 - - USMA MSV3d HSF - CLRN1_00012 g.150659489A>G
Exon 02 c.359T>A
  (Reported 4 times)
r.(?) p.(Met120Lys) Transmembrane 2 (101-121) Heterozygous Pathogenic rs121908141 Joensuu et al., 2001 - 0/302 controls USMA MSV3d HSF - CLRN1_00004 g.150659443A>T
Exon 02 c.368C>A
  (Reported 10 times)
r.(?) p.(Ala123Asp) - Homozygous Pathogenic - Ebermann et al., 2007 - 0/386 controls USMA MSV3d HSF - CLRN1_00001 g.150659434G>T
Exon 02i c.434-2A>T r.(?) p.(?) - Heterozygous Pathogenic {dbSNP765085056 } mutation - - HSF - CLRN1_00210 g.150644570T>A
Intron 03i NM_001195794:c.472+4C>T r.(=) p.(=) - Heterozygous Neutral rs1684666 Besnard, Garcia-Garcia et al., 2014 - - - - - CLRN1_00037 g.150658264G>A
Exon 03 NM_052995.2:c.300T>G
  (Reported 2 times)
r.(?) p.(Tyr100*) - Homozygous Pathogenic {dbSNP121908140 } mutation - - - - CLRN1_00042 g.150645894A>C
Exon 03 c.449T>C
  (Reported 2 times)
r.(?) p.(Leu150Pro) Transmembrane 3 (135-155) Heterozygous Pathogenic rs121908142 Fields et al., 2002 - 0/200 controls USMA MSV3d HSF - CLRN1_00014 g.150645973A>G
Exon 03 c.459_461delATT
  (Reported 2 times)
r.(?) p.(Ile153_Leu154delinsMet) Transmembrane 3 (135-155) Homozygous Pathogenic - Joensuu et al., 2001 - 0/302 controls - HSF - CLRN1_00006 g.150645961_150645963delAAT
Exon 03 c.461T>G
  (Reported 10 times)
r.(?) p.(Leu154Trp) Transmembrane 3 (135-155) Homozygous UV4 - Khan et al., 2011 Pathogenic 0/180 controls USMA MSV3d HSF none CLRN1_00019 g.150645961A>C
Exon 03 c.503T>A
  (Reported 2 times)
r.(?) p.(Ile168Asn) - Heterozygous UV3 - Garcia-Garcia et al., 2012 - 0/100 controls USMA MSV3d HSF - CLRN1_00036 g.150645919A>T
Exon 03 c.504dup
  (Reported 4 times)
r.(?) p.(Ile168Asnfs*5) - Heterozygous Pathogenic - Ebermann et al., 2007(2) - 0/212 controls - HSF - CLRN1_00002 g.150645920dup
Exon 03 c.528T>G
  (Reported 160 times)
r.(?) p.(Tyr176*) - Heterozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C
Exon 03 c.563C>A r.(?) p.(Ser188*) Transmembrane 4 (186-206) Heterozygous Pathogenic - Ratnam et al., 2012 - - - HSF +Tsp509I;-MnlI; CLRN1_00034 g.150645859G>T
Exon 03 c.619C>T
  (Reported 6 times)
r.(?) p.(Arg207*) - Homozygous Pathogenic - Licastro et al., 2012 - - - HSF - CLRN1_00015 g.150645803G>A
3' UTR 03 c.*277G>A
  (Reported 3 times)
r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - - none CLRN1_00021 g.150645446C>T
3' UTR 03 c.*300T>C r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed - - - none CLRN1_00031 g.150645423A>G
3' UTR 03 c.*407G>A r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - - -Hpy188I CLRN1_00025 g.150645316C>T
3' UTR 03 c.*725A>G r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - - +DdeI CLRN1_00023 g.150644998T>C
3' UTR 03 c.*916G>A r.(=) p.(=) - Heterozygous UV1 rs143654784 Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - - +BpuEI;-XhoI;-TliI;-AvaI;-BsoBI;-Hpy188III; CLRN1_00029 g.150644807C>T
3' UTR 03 c.*964C>T r.(=) p.(=) - Heterozygous UV1 rs16863066 Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - - +BccI;-HpyCH4III; CLRN1_00030 g.150644759G>A
3' UTR 03 c.*1027T>G r.(=) p.(=) - Heterozygous UV1 rs147434424 Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - - none CLRN1_00032 g.150644696A>C
3' UTR 03 c.*1191T>C r.(=) p.(=) - Heterozygous UV1 rs113817098 Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - - +HinP1I;+HaeII;+HhaI; CLRN1_00033 g.150644532A>G
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Legend: [ CLRN1 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.
Location: Variant location at DNA level. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Protein Domain: Protein Domain Inheritance: Type of inheritance (e.g. heterozygous) Variant remarks: Integrates Classification: Neutral - UV1 (certainly neutral) - UV2 (likely neutral) - UV3 (likely pathogenic) - UV4 (certainly pathogenic) - Pathogenic. Except for CHM where annotations concerning the effect of the variant are mentioned instead.

dbSNP/RFC: Accession number (rs) in dbSNP or link to reading frame checker Reference: Reference describing the variation Reported effect / publication: Original classification reported by the authors. Frequency: Frequency (control chromosomes) Missense: Create a link for USMA and/or MSV3d HSF: Direct link to HSF Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. CLRN1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Genomic DNA change: Genomic DNA change following hg19