Unique variants in gene PIGA

Information The variants shown are described using the NM_002641.3 transcript reference sequence.

64 entries on 1 page. Showing entries 1 - 64.
Legend  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 1 - c.-75A>G r.(?) p.(=) - likely benign g.15353635T>C g.15335513T>C PIGA(NM_002641.3):c.-75A>G (p.(=)) - PIGA_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.-63+140C>G r.(=) p.(=) - VUS g.15353483G>C g.15335361G>C - - PIGA_000015 - - - - Germline - - - - - Yu Sun
./. 1 2 c.16G>T r.(?) p.(Gly6*) - pathogenic g.15350037C>A g.15331915C>A - - PIGA_000032 1 more item PubMed: Nafa et al. 1998 - - Somatic yes - - - - Philippe Campeau
-/. 3 - c.55C>T r.(?) p.(Arg19Trp) - benign g.15349998G>A g.15331876G>A PIGA(NM_002641.3):c.55C>T (p.R19W) - PIGA_000046 66 heterozygous; Clinindb (India), 44 homozygous; Clinindb (India), 1 more item Faruq 2020, submtted - - Germline, CLASSIFICATION record - 66/2795 individuals, 44/2795 individuals - - - Mohammed Faruq, VKGL-NL_Utrecht
?/. 1 - c.56G>A r.(?) p.(Arg19Gln) - VUS g.15349997C>T g.15331875C>T PIGA(NM_002641.3):c.56G>A (p.R19Q) - PIGA_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.61A>G r.(?) p.(Ser21Gly) - VUS g.15349992T>C g.15331870T>C PIGA(NM_002641.3):c.61A>G (p.S21G, p.(Ser21Gly)) - PIGA_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.64C>T r.(?) p.(Pro22Ser) - likely benign g.15349989G>A g.15331867G>A PIGA(NM_002641.3):c.64C>T (p.P22S) - PIGA_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., ./. 2 - c.76dup r.(?) p.(Tyr26Leufs*4) - pathogenic, likely pathogenic g.15349979dup g.15331857dup 76dupT - PIGA_000002 1 more item PubMed: Belet et al 2014, PubMed: Claes 1997 - rs587777397 Germline yes - - - - Philippe Campeau, Guy Froyen
+?/., ?/. 2 2 c.98A>G r.(?) p.(His33Arg) - likely pathogenic, VUS g.15349955T>C g.15331833T>C - - PIGA_000040 VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record yes - - - - Wenjuan Qiu, VKGL-NL_Nijmegen
+/. 2 2 c.110T>C r.(?) p.(Met37Thr) - pathogenic g.15349943A>G g.15331821A>G - - PIGA_000057 1 more item - - - Germline/De novo (untested) - - - - - Philippe Campeau
?/., +?/+? 2 - c.145G>A r.(?) p.(Val49Met) - VUS, likely pathogenic g.15349908C>T g.15331786C>T - - PIGA_000049 VKGL data sharing initiative Nederland PubMed: Knaus et al. 2018 - - CLASSIFICATION record, Germline/De novo (untested) - - - - - VKGL-NL_Nijmegen, Philippe Campeau
+?/. 1 - c.182T>C r.(?) p.(Ile61Thr) - likely pathogenic g.15349871A>G g.15331749A>G - - PIGA_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
./. 1 2 c.211A>G r.(?) p.(Thr71Ala) - pathogenic g.15349842T>C g.15331720T>C - - PIGA_000030 1 more item PubMed: Nafa et al 1998 - - Somatic yes - - - - Philippe Campeau
+?/+? 1 - c.229C>G r.(?) p.(Arg77Gly) - likely pathogenic g.15349824G>C g.15331702G>C - - PIGA_000061 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - - - Philippe Campeau
?/. 1 - c.230G>A r.(?) p.(Arg77Gln) - VUS g.15349823C>T g.15331701C>T PIGA(NM_002641.3):c.230G>A (p.R77Q) - PIGA_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
./. 1 2 c.230G>T r.(?) p.(Arg77Leu) - pathogenic g.15349823C>A g.15331701C>A - - PIGA_000035 1 more item PubMed: Kato et al 2014 - rs587777398 Germline yes - - - - Philippe Campeau
+?/+? 1 - c.236G>T r.(?) p.(Gly79Val) - likely pathogenic g.15349817C>A g.15331695C>A - - PIGA_000062 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - - - Philippe Campeau
+?/+? 1 - c.242G>A r.(?) p.(Arg81His) - likely pathogenic g.15349811C>T g.15331689C>T - - PIGA_000063 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - - - Philippe Campeau
?/. 1 - c.248T>C r.(?) p.(Leu83Pro) - VUS g.15349805A>G g.15331683A>G PIGA(NM_002641.3):c.248T>C (p.L83P) - PIGA_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 2 c.251C>T r.(?) p.(Thr84Ile) - pathogenic g.15349802G>A g.15331680G>A - - PIGA_000031 1 more item PubMed: Nafa et al. 1998 - - Somatic yes - - - - Philippe Campeau
+/. 2 - c.278C>T r.(?) p.(Pro93Leu) - pathogenic g.15349775G>A g.15331653G>A PIGA(NM_002641.3):c.278C>T (p.P93L) - PIGA_000039 VKGL data sharing initiative Nederland, 1 more item PubMed: van der Crabben et al 2014 - rs587777400 Germline, CLASSIFICATION record yes - - - - Philippe Campeau, VKGL-NL_Utrecht
+/. 1 - c.290T>A r.(?) p.(Met97Lys) - pathogenic g.15349763A>T g.15331641A>T c.290T>A p.(Met97Lys) (hem) [NM_002641.3] - PIGA_000060 Hemizygous mutation - - - Germline - - - - - Philippe Campeau
+/. 1 - c.293A>C r.(?) p.(Tyr98Ser) - pathogenic g.15349760T>G g.15331638T>G PIGA (NM_002641.3) c.293A > C p. (Tyr98Ser) - PIGA_000058 1 more item - - - Germline - - - - - Philippe Campeau
?/. 1 - c.313A>C r.(?) p.(Thr105Pro) - VUS g.15349740T>G g.15331618T>G - - PIGA_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 2 c.355C>T r.(?) p.(Arg119Trp) - pathogenic g.15349698G>A g.15331576G>A - - PIGA_000037 1 more item PubMed: Kato et al 2014 - rs587777396 Unknown yes - - - - Philippe Campeau
+/. 1 - c.356G>A r.(?) p.(Arg119Gln) - pathogenic g.15349697C>T g.15331575C>T - - PIGA_000056 Patient's mother and aunt are carriers of the variant - - - Germline - - - - - Philippe Campeau
+?/+? 1 - c.404C>T r.(?) p.(Ala135Val) - likely pathogenic g.15349649G>A g.15331527G>A - - PIGA_000064 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - - - Philippe Campeau
+?/. 1 - c.424G>A r.(?) p.(Ala142Thr) - likely pathogenic g.15349629C>T g.15331507C>T - - PIGA_000053 - - - - Unknown - - - - - IMGAG
+?/. 1 - c.427A>G r.(?) p.(Lys143Glu) - likely pathogenic g.15349626T>C g.15331504T>C - - PIGA_000050 - PubMed: Kim et al. 2016 - - Germline - - - - - Philippe Campeau
+?/+? 1 - c.481G>A r.(?) p.(Asp161Asn) - likely pathogenic g.15349572C>T g.15331450C>T - - PIGA_000065 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - - - Philippe Campeau
-?/. 1 - c.492G>A r.(?) p.(Ser164=) - likely benign g.15349561C>T g.15331439C>T PIGA(NM_002641.3):c.492G>A (p.S164=) - PIGA_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 2 - c.535A>T r.(?) p.(Asn179Tyr) - likely pathogenic g.15349518T>A g.15331396T>A - - PIGA_000052 - PubMed: Joshi et al. 2016 - - Germline yes - - - - Philippe Campeau
+?/+? 1 - c.565A>G r.(?) p.(Lys189Glu) - likely pathogenic g.15349488T>C g.15331366T>C - - PIGA_000066 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - - - Philippe Campeau
?/. 1 - c.613G>A r.(?) p.(Val205Ile) - VUS g.15349440C>T g.15331318C>T - - PIGA_000054 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
+/. 1 2 c.616A>T r.(?) p.(Ile206Phe) - pathogenic g.15349437T>A g.15331315T>A - - PIGA_000036 1 more item PubMed: Kato et al 2014 - rs201119959 Unknown yes - - - - Philippe Campeau
?/. 2 - c.665G>A r.(?) p.(Arg222Lys) - VUS g.15349388C>T g.15331266C>T PIGA(NM_002641.3):c.665G>A (p.R222K, p.(Arg222Lys)) - PIGA_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.715+168C>A r.(=) p.(=) - VUS g.15349170G>T g.15331048G>T - - PIGA_000014 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.716-10A>G r.(=) p.(=) - likely benign g.15344178T>C g.15326056T>C PIGA(NM_002641.3):c.716-10A>G - PIGA_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/., -?/. 5 - c.849-129_849-128dup r.(=) p.(=) - VUS, likely benign g.15343402_15343403dup g.15325280_15325281dup PIGA(NM_002641.3):c.849-129_849-128dupTT - PIGA_000012, PIGA_000017, PIGA_000071 VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record - - - - - Yu Sun, VKGL-NL_Utrecht
-?/. 1 - c.849-71G>A r.(=) p.(=) - likely benign g.15343345C>T g.15325223C>T PIGA(NM_002641.3):c.849-71G>A - PIGA_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 3 - c.849-5A>G r.spl? p.(Arg283Serfs*15) - pathogenic g.15343279T>C g.15325157T>C - - PIGA_000055 Nonsense mutation, 2 more items - - - Germline - - - - - Philippe Campeau
-?/. 1 - c.933T>C r.(?) p.(Thr311=) - likely benign g.15343190A>G g.15325068A>G PIGA(NM_002641.3):c.933T>C (p.T311=) - PIGA_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.954C>T r.(?) p.(Ile318=) - likely benign g.15343169G>A g.15325047G>A PIGA(NM_002641.3):c.954C>T (p.I318=) - PIGA_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/., +?/+? 2 - c.971G>T r.(?) p.(Cys324Phe) - pathogenic, likely pathogenic g.15343152C>A g.15325030C>A - - PIGA_000048 VKGL data sharing initiative Nederland PubMed: Knaus et al. 2018 - - CLASSIFICATION record, Germline/De novo (untested) - - - - - VKGL-NL_Nijmegen, Philippe Campeau
-?/. 2 - c.981+8G>A r.(=) p.(=) - likely benign g.15343134C>T g.15325012C>T PIGA(NM_002641.3):c.981+8G>A - PIGA_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+?/. 1 - c.989G>A r.(?) p.(Ser330Asn) - likely pathogenic g.15342986C>T g.15324864C>T - - PIGA_000051 - PubMed: Tarailo-Graovac et al. 2015 - - Germline yes - - - - Philippe Campeau
+/. 1 4 c.1030_1032del r.(?) p.(Leu344del) - pathogenic g.15342943_15342945del g.15324821_15324823del - - PIGA_000038 1 more item PubMed: Swoboda et al 2014 - rs587777399 Germline yes - - - - Philippe Campeau
+/. 1 - c.1064T>C r.(?) p.(Leu355Ser) - pathogenic g.15342911A>G g.15324789A>G - - PIGA_000059 Heterozygous mutation. - - - De novo - - - - - Philippe Campeau
?/. 1 - c.1202T>G r.(?) p.(Val401Gly) - VUS g.15339881A>C g.15321759A>C - - PIGA_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 5 6 c.1234C>T r.(?) p.(Arg412*) - pathogenic g.15339849G>A g.15321727G>A - - PIGA_000033 Hemizygous, Hemizygous mutation., Hemizygous mutation, 2 more items PubMed: Johnston et al 2012, PubMed: Kato et al 2014 - rs387906726 Germline, Unknown yes - - - - Philippe Campeau
-?/. 1 - c.1261G>A r.(?) p.(Gly421Ser) - likely benign g.15339822C>T g.15321700C>T - - PIGA_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
./. 1 6 c.1325_1356dup r.(?) p.(Val453*) - pathogenic g.15339728_15339759dup g.15321606_15321637dup - - PIGA_000029 1 more item PubMed: Nafa et al. 1998 - - Somatic yes - - - - Philippe Campeau
?/. 1 - c.1330T>G r.(?) p.(Trp444Gly) - VUS g.15339753A>C g.15321631A>C PIGA(NM_002641.3):c.1330T>G (p.W444G) - PIGA_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 1 - c.1352T>C r.(?) p.(Ile451Thr) - likely pathogenic g.15339731A>G g.15321609A>G - - PIGA_000067 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - - - Philippe Campeau
+?/+? 1 - c.1354G>T r.(?) p.(Asp452Tyr) - likely pathogenic g.15339729C>A g.15321607C>A - - PIGA_000068 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - - - Philippe Campeau
./. 1 6 c.1355_1356insAA r.(?) p.(Asp452Glufs*5) - pathogenic g.15339728_15339729insTT g.15321606_15321607insTT - - PIGA_000028 1 more item PubMed: Nafa et al 1998 - - Somatic yes - - - - Philippe Campeau
-?/. 1 - c.1420G>A r.(?) p.(Gly474Arg) - likely benign g.15339663C>T g.15321541C>T PIGA(NM_002641.3):c.1420G>A (p.G474R) - PIGA_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 2 - c.1421G>T r.(?) p.(Gly474Val) - likely benign g.15339662C>A g.15321540C>A PIGA(NM_002641.3):c.1421G>T (p.G474V) - PIGA_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 2 - c.*1626T>C r.(=) p.(=) - VUS g.15338002A>G g.15319880A>G - - PIGA_000009 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*1746T>A r.(=) p.(=) - VUS g.15337882A>T g.15319760A>T - - PIGA_000006 - - - - Germline - - - - - Yu Sun
?/. 4 - c.*1778dup r.(=) p.(=) - VUS g.15337857dup g.15319735dup - - PIGA_000004, PIGA_000018 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*2014A>G r.(=) p.(=) - VUS g.15337614T>C g.15319492T>C - - PIGA_000003 - - - - Germline - - - - - Yu Sun
?/. 1 - c.*5985A>G r.(=) p.(=) - VUS g.15333643T>C g.15315521T>C ASB11(NM_080873.2):c.85A>G (p.K29E) - ASB11_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*6082G>A r.(=) p.(=) - likely benign g.15333546C>T g.15315424C>T ASB11(NM_080873.2):c.181+1G>A - ASB11_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
Legend