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rs587777207

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
Position40016508
GeneEIF2AK4
is asnp
is mentioned by
dbSNPrs587777207
ebirs587777207
HLIrs587777207
Exacrs587777207
Varsomers587777207
Maprs587777207
PheGenIrs587777207
hapmaprs587777207
1000 genomesrs587777207
hgdprs587777207
ensemblrs587777207
gopubmedrs587777207
geneviewrs587777207
scholarrs587777207
googlers587777207
pharmgkbrs587777207
gwascentralrs587777207
openSNPrs587777207
23andMers587777207
23andMe allrs587777207
SNP Nexus

SNPshotrs587777207
SNPdbers587777207
MSV3drs587777207
GWAS Ctlgrs587777207
Max Magnitude7

Also known as c.3766C>T (p.Arg1256Ter), 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 rs587777207(T;T)
Alt rs587777207(T;T)
Reference rs587777207(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.40308709C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000087756.4,