rs387907301

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

123886270

Gene

XIAP

is a	snp
is	mentioned by
dbSNP	rs387907301
dbSNP (classic)	rs387907301
ClinGen	rs387907301
ebi	rs387907301
HLI	rs387907301
Exac	rs387907301
Gnomad	rs387907301
Varsome	rs387907301
LitVar	rs387907301
Map	rs387907301
PheGenI	rs387907301
Biobank	rs387907301
1000 genomes	rs387907301
hgdp	rs387907301
ensembl	rs387907301
geneview	rs387907301
scholar	rs387907301
google	rs387907301
pharmgkb	rs387907301
gwascentral	rs387907301
openSNP	rs387907301
23andMe	rs387907301
SNPshot	rs387907301
SNPdbe	rs387907301
MSV3d	rs387907301
GWAS Ctlg	rs387907301

Max Magnitude

7

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	RCV000030806.15,