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rs587777105

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
Position40007064
GeneEIF2AK4
is asnp
is mentioned by
dbSNPrs587777105
ebirs587777105
HLIrs587777105
Exacrs587777105
Varsomers587777105
Maprs587777105
PheGenIrs587777105
hapmaprs587777105
1000 genomesrs587777105
hgdprs587777105
ensemblrs587777105
gopubmedrs587777105
geneviewrs587777105
scholarrs587777105
googlers587777105
pharmgkbrs587777105
gwascentralrs587777105
openSNPrs587777105
23andMers587777105
23andMe allrs587777105
SNP Nexus

SNPshotrs587777105
SNPdbers587777105
MSV3drs587777105
GWAS Ctlgrs587777105
Max Magnitude7

Also known as c.3406C>T (p.Arg1136Ter), 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 rs587777105(T;T)
Alt rs587777105(T;T)
Reference rs587777105(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.40299265C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000083309.4,