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rs387907301

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 7 X-linked lymphoproliferative syndrome
(A;G) 3 Carrier of an allele for X-linked lymphoproliferative syndrome
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
ChromosomeX
Position123886270
GeneXIAP
is asnp
is mentioned by
dbSNPrs387907301
ebirs387907301
HLIrs387907301
Exacrs387907301
Varsomers387907301
Maprs387907301
PheGenIrs387907301
hapmaprs387907301
1000 genomesrs387907301
hgdprs387907301
ensemblrs387907301
gopubmedrs387907301
geneviewrs387907301
scholarrs387907301
googlers387907301
pharmgkbrs387907301
gwascentralrs387907301
openSNPrs387907301
23andMers387907301
23andMe allrs387907301
SNP Nexus

SNPshotrs387907301
SNPdbers387907301
MSV3drs387907301
GWAS Ctlgrs387907301
Max Magnitude7

rs387907301, also known as c.608G>A, p.Cys203Tyr and C203Y, represents a rare mutation in the XIAP gene on the X chromosome.

First published in 2011 based on the discovery in a young boy with symptoms of inflammatory bowel disease, the 387907301(A) allele is now considered causative for X-linked lymphoproliferative syndrome when inherited in a male, and presumably if homozygous (or compound heterozygous) in a female.[PMID 21173700]

As one of the first successes of exome sequencing, the diagnostic and therapeutic odyssey of this boy, Nicholas (Nic) Volker, has been described in numerous publications, including the book "One in a Billion".


ClinVar
Risk rs387907301(A;A)
Alt rs387907301(A;A)
Reference rs387907301(G;G)
Significance Pathogenic
Disease Lymphoproliferative syndrome 2
Variation info
Gene XIAP
CLNDBN Lymphoproliferative syndrome 2, X-linked
Reversed 0
HGVS NC_000023.10:g.123020120G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000030806.14,