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rs587777107

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a pulmonary hypertension mutation
(T;T) 7 Pulmonary venoocclusive disease
ReferenceGRCh38 38.1/142
Chromosome15
Position39967713
GeneEIF2AK4
is asnp
is mentioned by
dbSNPrs587777107
ebirs587777107
HLIrs587777107
Exacrs587777107
Varsomers587777107
Maprs587777107
PheGenIrs587777107
hapmaprs587777107
1000 genomesrs587777107
hgdprs587777107
ensemblrs587777107
gopubmedrs587777107
geneviewrs587777107
scholarrs587777107
googlers587777107
pharmgkbrs587777107
gwascentralrs587777107
openSNPrs587777107
23andMers587777107
23andMe allrs587777107
SNP Nexus

SNPshotrs587777107
SNPdbers587777107
MSV3drs587777107
GWAS Ctlgrs587777107
Max Magnitude7

Also known as c.1387C>T (p.Arg463Ter), this rare mutation in the EIF2AK4 gene is reported in ClinVar as leading to - when inherited recessively - rare forms of pulmonary hypertension, specifically, pulmonary capillary hemangiomatosis (PCH) and pulmonary venoocclusive disease (PVOD).[PMID 24135949OA-icon.png]

ClinVar
Risk rs587777107(T;T)
Alt rs587777107(T;T)
Reference rs587777107(C;C)
Significance Pathogenic
Disease Familial pulmonary capillary hemangiomatosis
Variation info
Gene EIF2AK4
CLNDBN Familial pulmonary capillary hemangiomatosis
Reversed 0
HGVS NC_000015.9:g.40259914C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000083311.4,