rs587777105

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

40007064

Gene

EIF2AK4

is a	snp
is	mentioned by
dbSNP	rs587777105
dbSNP (classic)	rs587777105
ClinGen	rs587777105
ebi	rs587777105
HLI	rs587777105
Exac	rs587777105
Gnomad	rs587777105
Varsome	rs587777105
LitVar	rs587777105
Map	rs587777105
PheGenI	rs587777105
Biobank	rs587777105
1000 genomes	rs587777105
hgdp	rs587777105
ensembl	rs587777105
geneview	rs587777105
scholar	rs587777105
google	rs587777105
pharmgkb	rs587777105
gwascentral	rs587777105
openSNP	rs587777105
23andMe	rs587777105
SNPshot	rs587777105
SNPdbe	rs587777105
MSV3d	rs587777105
GWAS Ctlg	rs587777105

Max Magnitude

7

Also known as c.3406C>T (p.Arg1136Ter), 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	Rs587777105(T;T)
Alt	Rs587777105(T;T)
Reference	Rs587777105(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.40299265C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000083309.5,