rs587777107

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a pulmonary hypertension mutation
(T;T)	7	Pulmonary venoocclusive disease

Reference

GRCh38 38.1/142

Chromosome

15

Position

39967713

Gene

EIF2AK4

is a	snp
is	mentioned by
dbSNP	rs587777107
dbSNP (classic)	rs587777107
ClinGen	rs587777107
ebi	rs587777107
HLI	rs587777107
Exac	rs587777107
Gnomad	rs587777107
Varsome	rs587777107
LitVar	rs587777107
Map	rs587777107
PheGenI	rs587777107
Biobank	rs587777107
1000 genomes	rs587777107
hgdp	rs587777107
ensembl	rs587777107
geneview	rs587777107
scholar	rs587777107
google	rs587777107
pharmgkb	rs587777107
gwascentral	rs587777107
openSNP	rs587777107
23andMe	rs587777107
SNPshot	rs587777107
SNPdbe	rs587777107
MSV3d	rs587777107
GWAS Ctlg	rs587777107

Max Magnitude

7

Also known as c.1387C>T (p.Arg463Ter), 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 24135949 ]

ClinVar
Risk	Rs587777107(T;T)
Alt	Rs587777107(T;T)
Reference	Rs587777107(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.40259914C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000083311.5,