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rs587777102

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 7 Pulmonary venoocclusive disease
(-;T) 3 Carrier of a pulmonary hypertension mutation
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/142
Chromosome15
Position39967718
GeneEIF2AK4
is asnp
is mentioned by
dbSNPrs587777102
ebirs587777102
HLIrs587777102
Exacrs587777102
Varsomers587777102
Maprs587777102
PheGenIrs587777102
hapmaprs587777102
1000 genomesrs587777102
hgdprs587777102
ensemblrs587777102
gopubmedrs587777102
geneviewrs587777102
scholarrs587777102
googlers587777102
pharmgkbrs587777102
gwascentralrs587777102
openSNPrs587777102
23andMers587777102
23andMe allrs587777102
SNP Nexus

SNPshotrs587777102
SNPdbers587777102
MSV3drs587777102
GWAS Ctlgrs587777102
Max Magnitude7

Also known as c.1392delT (p.Arg465Valfs), 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 rs587777102(;)
Alt rs587777102(;)
Reference rs587777102(T;T)
Significance Pathogenic
Disease Familial pulmonary capillary hemangiomatosis
Variation info
Gene EIF2AK4
CLNDBN Familial pulmonary capillary hemangiomatosis
Reversed 0
HGVS NC_000015.9:g.40259919delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000083306.5,