LOVD - Variant listings for PORCN

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- deletion r.(?) deletion PORCN and EBP +? - Deletion - PORCN_00115 ? (unknown) not documented Patrizi et al. 2012 DNA MAPH
- Deletion ex 1-4 r.(?) del PORCN - deletion - PORCN_00064 sporadic 83/17 Bornholdt et al. 2009 DNA array CGH/MAPH
- Deletion ex 1-8
  (Reported 2 times)
r.(?) del PORCN - Deletion mosaic PORCN_00119 ? (unknown) unknown Sellars et al. 2013 DNA arrayCGH
- Microdeletion 1 r.(?) del PORCN - deletion - PORCN_00065 sporadic 98/2 Bornholdt et al. 2009 DNA array CGH/MAPH
- Microdeletion 2 r.(?) del PORCN - deletion - PORCN_00066 sporadic 100/0 Bornholdt et al. 2009 DNA MAPH
- Microdeletion 3 r.(?) del PORCN - deletion - PORCN_00067 Familial 100/0 Bornholdt et al. 2009 DNA MAPH
- ~219 kb deletion r.(?) del PORCN - deletion mother and sister affected by history PORCN_00071 unknown 100/0 Wang et al. 2007 DNA qPCR,arrayCGH, FISH
- 112 kb del r.(?) del PORCN - Deletion phenotype is angioma serpiginosum PORCN_00075 familial 100/0 Houge, 2008 DNA arrayCGH
- 137.411 bp deletion r.(?) del SLC38A5, FTSJ1, PORCN,EBP and OATL1 - deletion - PORCN_00068 Familial 95/5 Grzeschik et al. 2007 DNA array CGH/MAPH
- 150 kb del r.(?) del PORCN - deletion - PORCN_00073 de novo non informative Froyen et al. 2009 DNA array CGH
- 219 kb deletion r.(?) del PORCN - deletion - PORCN_00072 de novo 100/0 Wang et al. 2007 DNA arrayCGH,FISH,qPCR
- 364.864 bp deletion r.(?) del SLC38A5, FTSJ1, PORCN,EBP - deletion - PORCN_00069 Familial 99/1 Grzeschik et al. 2007 DNA array CGH/MAPH
- 377.520 bp deletion r.(?) del PORCN - deletion - PORCN_00070 Familial 97/3 Grzeschik et al. 2007 DNA array CGH/MAPH
- 502 kb deletion r.(?) del PORCN +? - Deletion mutation inherited from mildly affected mother PORCN_00078 familial 99/1 Lombardi et al, 2011 DNA arrayCGH
02 c.1A>G r.(?) p.Met1? - missense - PORCN_00001 de novo not available Lombardi et al, 2011 DNA SEQ
02 c.3G>A r.(?) p.Met1? p.Met1Ile missense - PORCN_00002 sporadic 79/21 Bornholdt et al. 2009 DNA SEQ
02 c.49dupT r.(?) p.Cys17LeufsX11 - frameshift - PORCN_00003 de novo 54/46 Harmsen et al. 2009 DNA SEQ
02 c.53dupT r.(?) p.Leu19ProfsX9 p.Leu18LeufsX10 frameshift - PORCN_00004 de novo 50/50 Wang et al. 2007 DNA SEQ
02 c.74delG r.(?) p.Gly25AlafsX27 - frameshift - PORCN_00005 unknown (adopted) 66.6/33.4 Clements et al. 2009 DNA SEQ
02 c.108C>A r.(?) p.C36X - Substitution - PORCN_00082 ? (unknown) not available Fernandes et al, 2010 DNA SEQ
02 c.129G>A
  (Reported 2 times)
r.(?) p.Trp43X - Substitution truncation, detected in blood PORCN_00099 de novo, somatic mosaicism - Yoshihashi et al. 2010 DNA SEQ
02i c.136+1G>A r.(?) p.? IVS2+1G>A Substitution splicing defect PORCN_00098 ? (unknown) not available Kapoor et al. 2012 DNA SEQ
02i c.136+2delT r.(?) p.? - Substitution splicing defect PORCN_00083 ? (unknown) not available Fernandes et al, 2010 DNA SEQ
02i c.137-3A>G r.(?) p.? - Substitution splicing defect predicted with in silico analysis PORCN_00105 ? (unknown) not available unpublished DNA SEQ
03 c.166_167dup
  (Reported 2 times)
r.(?) p.Val57ProfsX60 - frameshift - PORCN_00006 unknown 83/17 Harmsen et al. 2009 DNA SEQ
03 c.178G>A
  (Reported 7 times)
r.(?) p.Gly60Arg - missense - PORCN_00007 mother low level mosaicism 63/37 Wang et al. 2007 DNA SEQ
03 c.221G>A r.(?) p.Trp74X - nonsense - PORCN_00008 de novo 76/24 Harmsen et al. 2009 DNA SEQ
03 c.222G>A r.(?) p.Trp74X - nonsense - PORCN_00009 sporadic 65/35 Grzeschik et al. 2007 DNA SEQ
03 c.268C>T
  (Reported 4 times)
r.(?) p.Arg90X - nonsense - PORCN_00010 unknown 81/19 Wang et al. 2007 DNA SEQ
03 c.283C>T
  (Reported 3 times)
r.(?) p.Arg95X - nonsense - PORCN_00011 sporadic 55/45 Bornholdt et al. 2009 DNA SEQ
03i c.330-27del r.(?) p.? c.330-27delG Deletion predicted to be benign with in silico analysis PORCN_00101 ? (unknown) non available Fernandes et al. 2010 DNA SEQ
03i c.330-11T>A r.(?) p.? - Substitution possible begnin PORCN_00100 ? (unknown) not available Fernandes et al. 2010 DNA SBE
03 c.360G>A r.(?) p.Trp120X - Substitution mosaic PORCN_00084 - - Fernandes et al. 2010 DNA SEQ
04 c.370C>T
  (Reported 5 times)
r.(?) p.Arg124X - nonsense mosaic PORCN_00012 de novo - Wang et al. 2007 DNA SEQ
04 c.373G>A r.= p.Gly125Arg - Substitution - PORCN_00081 ? (unknown) non documented unpublished DNA SEQ
04i c.373+1G>A r.(?) p.? - splicing - PORCN_00013 de novo 61/39 Leoyklang et al. 2009 DNA SEQ
04i c.374-46T>A r.(?) p.? - splicing - PORCN_00016 unknown 86/14 Harmsen et al. 2009 DNA SEQ
04i c.374-15T>A
  (Reported 2 times)
r.(?) p.? - splicing - PORCN_00015 de novo (inferred) not available Schaffer et al. 2009 DNA SEQ
04i c.374-1G>A r.(?) p.? - splicing - PORCN_00014 sporadic 84/16 Bornholdt et al. 2009 DNA SEQ
5 c.387del r.(?) - in frame insertion 8 amino acids Deletion mRNA analysis shows a 13bp insertion created by an alternative splicing site PORCN_00118 ? (unknown) slightly skewed pattern in lesional skin Nakanishi et al. 2013 DNA SEQ
05 c.407C>T r.(?) p.Ser136Phe - missense - PORCN_00017 sporadic 57/43 Bornholdt et al. 2009 DNA SEQ
05 c.479dupA r.(?) p.Tyr160X - nonsense - PORCN_00018 de novo 52/48 Wang et al. 2007 DNA SEQ
05 c.502G>A
  (Reported 4 times)
r.(?) p.Gly168Arg - missense postzygotic mosaic PORCN_00019 sporadic - Bornholdt et al. 2009 DNA SEQ
05 c.509G>A
  (Reported 2 times)
r.(?) p.Trp170X - nonsense - PORCN_00020 unknown not available Maas et al. 2009 DNA SEQ
05i c.555+4A>G r.(?) p.? - Substitution splicing defect PORCN_00094 ? (unknown) not available Fernandes et al. 2010 DNA SEQ
05i c.556-1G>C r.(?) p.? - Substitution splicing defect PORCN_00085 - not available Fernandes et al. 2010 DNA SEQ
06 c.566G>A r.(?) p.Trp189X - Substitution truncation PORCN_00086 ? (unknown) not available Fernandes et al. 2010 DNA SEQ
06 c.571C>T r.(?) p.Gln191X - nonsense postzygotic mosaic PORCN_00021 unknown - Maas et al. 2009 DNA (fibroblasts) SEQ
06 c.576delG
  (Reported 2 times)
r.(?) p.Val193TrpfsX47 - frameshift same as c.577delG PORCN_00022 de novo 65/35 Wang et al. 2007 DNA SEQ
06 c.584_601del r.(?) p.Arg195_Ala200del - Deletion in-frame deletion PORCN_00106 de novo, in patient not available unpublished DNA SEQ
06 c.637delT r.(?) p.Tyr213ThrfsX27 - frameshift - PORCN_00023 de novo not available Maas et al. 2009 DNA SEQ
06 c.670dup r.(?) p.Asp224GlyfsX92 - Duplication - PORCN_00087 ? (unknown) not available Fernandes et al. 2010 DNA SEQ
06 c.682C>T r.(?) p.Arg228Cys - missense inherited from unaffected mother PORCN_00024 familial 82/18 Leoyklang et al. 2009 DNA SEQ
08i c.719+15C>T
  (Reported 2 times)
r.(?) p.? - Substitution possible splicing defect predicted with in silico analysis, inherited from mildly affected mother AMC_22 PORCN_00109 familial 65/35 unpublished DNA SEQ
08i c.720-28C>T r.(?) p.? - Substitution Predicted possible benign with in silico analysis PORCN_00102 ? (unknown) not available Fernandes et al. 2010 DNA SEQ
08i c.720-2A>T r.(?) p.? - splicing - PORCN_00025 sporadic 55/45 Grzeschik et al. 2007 DNA SEQ
09 c.727C>T
  (Reported 5 times)
r.(?) p.Arg243X - nonsense - PORCN_00026 sporadic 65/35 Grzeschik et al. 2007 DNA SEQ
09 c.737dup r.(?) p.Ser247GlufsX69 c.737_738insA; p.Ser247GlufsX315 frameshift - PORCN_00028 de novo 82/18 Leoyklang et al. 2009 DNA SEQ
09 c.754C>T r.(?) p.His252Tyr - missense - PORCN_00027 de novo not available Lombardi et al, 2011 DNA SEQ
09 c.773T>A r.(?) p.Val258Glu - missense - PORCN_00029 sporadic 82/18 Bornholdt et al. 2009 DNA SEQ
9 c.785C>A r.? p.Ser262Tyr - Substitution - PORCN_00113 ? (unknown) not documented unpublished DNA SEQ
09 c.787G>A r.(?) p.Glu263Lys - - - PORCN_00107 ? (unknown) not available unpublished DNA SEQ
09 c.787_792dup r.(?) p.Glu263_Ala264dup p.Glu262_Ala263dup insertion/duplication - PORCN_00030 de novo 90/10 Wang et al. 2007 DNA SEQ
09 c.815_816dup r.(?) p.Phe273AlafsX13 c.816_817insGC; p.Phe273fsX284 frameshift postzygotic mosaic PORCN_00031 sporadic 60/40 Grzeschik et al. 2007 DNA SEQ
09i c.845+1G>C r.(?) - - - - PORCN_00077 ? (unknown) not available Lombardi et al, 2011 DNA SEQ
i9 c.845+2T>G r.? - - Substitution splicing PORCN_00112 ? (unknown) unknown unpublished DNA SEQ
9 c.853_855delACG - p.Thr285del - Deletion - PORCN_00116 de novo, somatic mosaicism - Peters et al., 2014 DNA PCR
10 c.846G>A r.(?) p.Trp282X - nonsense/splicing - PORCN_00032 unknown non informative Clements et al. 2009 DNA SEQ
10 c.846_879del34 r.(?) p.Trp282CysfsX21 p.Trp282fsX302 frameshift - PORCN_00033 sporadic 62/38 Bornholdt et al. 2009 DNA SEQ
10 c.854_855ins r.(?) p.Thr285fsX316 c.854_855insACCTGAC Insertion frameshift/truncation PORCN_00097 ? (unknown) random Xi in blood and unaffected skin, skewed in affected skin Maalouf et al. 2012 DNA SEQ
10 c.886delC r.(?) p.Arg296GlyfsX18 - - postzygotic mosaicism, not detected in mother detected in blood PORCN_00080 ? (unknown) - Vreeburg et al. 2010 DNA SEQ
10 c.890C>T
  (Reported 2 times)
r.(?) p.Ser297Leu - missense - PORCN_00034 de novo not available Maas et al. 2009 DNA SEQ
10 c.898G>T r.(?) p.Glu300X - nonsense - PORCN_00035 de novo not available Clements et al. 2008 DNA SEQ
10 c.914G>A r.(?) p.Trp305X - nonsense - PORCN_00036 unknown not available Lombardi et al, 2011 DNA SEQ
10 c.924delC r.(?) p.Met309CysfsX5 p.308fsX313 frameshift - PORCN_00037 sporadic 80/20 Grzeschik et al. 2007 DNA SEQ
10 c.935G>A r.(?) p.Trp312X - nonsense - PORCN_00038 sporadic non informative Bornholdt et al. 2009 DNA SEQ
10 c.938T>G
  (Reported 2 times)
r.(?) p.Leu313Arg - Substitution inherited from mildly affected mother AMC_22 PORCN_00108 familial 65/35 Contreras-Capetillo et al., 2013 DNA SEQ
10i c.946+1G>A r.(?) p.? - Substitution splicing defect PORCN_00088 ? (unknown) non available Fernandes et al. 2010 DNA SEQ
10i c.947-2A>C
  (Reported 2 times)
r.(?) p.? - splicing - PORCN_00039 familial 95/5 Maas et al. 2009 DNA SEQ
10i c.947-1G>C r.(?) p.? - splicing - PORCN_00040 unknown not available Lombardi et al, 2011 DNA SEQ
11 c.992T>G r.(?) p.Leu331Arg - missense - PORCN_00041 de novo 94/6 Froyen et al. 2009 DNA SEQ
11 c.1012G>C r.? p.Ala338Pro - Substitution - PORCN_00111 de novo unknown unpublished DNA SEQ
11 c.1021C>T r.(?) p.His341Tyr - Substitution - PORCN_00089 de novo non available Fernandes et al. 2010 DNA SEQ
11 c.1022A>T r.(?) p.His341Leu - missense - PORCN_00042 sporadic 50/50 Bornholdt et al. 2009 DNA SEQ
11i c.1024-2A>G r.(?) - - - - PORCN_00076 ? (unknown) not available Lombardi et al, 2011 DNA SEQ
11i c.1024-1G>A r.(?) p.? - Substitution splicing defect PORCN_00104 ? (unknown) non available unpublished DNA SEQ
12 c.1040T>C r.(?) p.Leu347Pro - Substitution - PORCN_00095 ? (unknown) not available Fernandes et al. 2010 DNA SEQ
12 c.1045_1065del21 r.(?) p.Ala349_Ala355del - in-frame deletion - PORCN_00043 unknown 50/50 Wang et al. 2007 DNA SEQ
12 c.1047_1054dup r.(?) p.Leu352ArgfsX50 - Duplication frameshift/truncation, detected in blood PORCN_00110 ? (unknown) - unpublished DNA SEQ
12 c.1059_1071dup13
  (Reported 2 times)
r.(?) p.Thr358ProfsX65 - frameshift - PORCN_00044 father mosaic for mutation non informative Wang et al. 2007 DNA SEQ
12 c.1061_1062insAGGACCCT r.(?) p.Ala355GlyfsX47 p.L354fsX401 frameshift postzygotic mosaic PORCN_00074 sporadic non informative Grzeschik et al. 2007 DNA SEQ
12 c.1064_1081del18 r.(?) p.Ala355_Val360del p.Ala355_Val360del6 in-frame deletion mosaic PORCN_00045 de novo - Wang et al. 2007 DNA SEQ
12 c.1076dup r.(?) p.Tyr359X - Duplication truncation PORCN_00090 ? (unknown) not available Fernandes et al. 2010 DNA SEQ
12 c.1077C>A r.(?) p.Tyr359X - nonsense - PORCN_00046 familial 96/4 Bornholdt et al. 2009 DNA SEQ
12 c.1077C>G r.(?) p.Tyr359X - - mutation not detected in mother, father not available PORCN_00079 ? (unknown) 100/0 Dias et al. 2010 DNA SEQ
12 c.1082A>T r.(?) p.Glu361Val - missense - PORCN_00047 de novo 32/38 Harmsen et al. 2009 DNA SEQ
13 c.1093C>G
  (Reported 2 times)
r.(?) p.Arg365Gly - missense mosaic PORCN_00048 de novo - Wang et al. 2007 DNA SEQ
13 c.1094G>A
  (Reported 9 times)
r.(?) p.Arg365Gln - missense postzygotic mosaic PORCN_00049 sporadic non informative Bornholdt et al. 2009 DNA SEQ
13 c.1106C>T r.(?) p.Ala369Val - Substitution - PORCN_00096 - not available Fernandes et al. 2010 DNA SEQ
13 c.1110delG r.(?) p.Ile371SerfsX28 p.Arg370fsX398 frameshift postzygotic mosaic PORCN_00050 sporadic - Bornholdt et al. 2009 DNA SEQ
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Legend: [ PORCN 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 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. Variant Original description: Original report Type: Type of variant at DNA level. Variant remarks: Variant remarks PORCN DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Origin: Origin X_inactivation: X skewing Reference: Reference Detection/Template: Detection/Template Detection/Technique: Detection/Technique