rs587777208

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

40008067

Gene

EIF2AK4

is a	snp
is	mentioned by
dbSNP	rs587777208
dbSNP (classic)	rs587777208
ClinGen	rs587777208
ebi	rs587777208
HLI	rs587777208
Exac	rs587777208
Gnomad	rs587777208
Varsome	rs587777208
LitVar	rs587777208
Map	rs587777208
PheGenI	rs587777208
Biobank	rs587777208
1000 genomes	rs587777208
hgdp	rs587777208
ensembl	rs587777208
geneview	rs587777208
scholar	rs587777208
google	rs587777208
pharmgkb	rs587777208
gwascentral	rs587777208
openSNP	rs587777208
23andMe	rs587777208
SNPshot	rs587777208
SNPdbe	rs587777208
MSV3d	rs587777208
GWAS Ctlg	rs587777208

Max Magnitude

7

Also known as c.3448C>T (p.Arg1150Ter), 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	Rs587777208(T;T)
Alt	Rs587777208(T;T)
Reference	Rs587777208(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.40300268C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000087757.6,