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rs587777208

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
Position40008067
GeneEIF2AK4
is asnp
is mentioned by
dbSNPrs587777208
ebirs587777208
HLIrs587777208
Exacrs587777208
Varsomers587777208
Maprs587777208
PheGenIrs587777208
hapmaprs587777208
1000 genomesrs587777208
hgdprs587777208
ensemblrs587777208
gopubmedrs587777208
geneviewrs587777208
scholarrs587777208
googlers587777208
pharmgkbrs587777208
gwascentralrs587777208
openSNPrs587777208
23andMers587777208
23andMe allrs587777208
SNP Nexus

SNPshotrs587777208
SNPdbers587777208
MSV3drs587777208
GWAS Ctlgrs587777208
Max Magnitude7

Also known as c.3448C>T (p.Arg1150Ter), 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 rs587777208(T;T)
Alt rs587777208(T;T)
Reference rs587777208(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.40300268C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000087757.4,