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rs587777103

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
Position40016544
GeneEIF2AK4
is asnp
is mentioned by
dbSNPrs587777103
ebirs587777103
HLIrs587777103
Exacrs587777103
Varsomers587777103
Maprs587777103
PheGenIrs587777103
hapmaprs587777103
1000 genomesrs587777103
hgdprs587777103
ensemblrs587777103
gopubmedrs587777103
geneviewrs587777103
scholarrs587777103
googlers587777103
pharmgkbrs587777103
gwascentralrs587777103
openSNPrs587777103
23andMers587777103
23andMe allrs587777103
SNP Nexus

SNPshotrs587777103
SNPdbers587777103
MSV3drs587777103
GWAS Ctlgrs587777103
Max Magnitude7

Also known as c.3802C>T (p.Gln1268Ter), 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 rs587777103(T;T)
Alt rs587777103(T;T)
Reference rs587777103(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.40308745C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000083307.4,