rs587777104

plus

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

Reference

GRCh38 38.1/142

Chromosome

15

Position

39953957

Gene

EIF2AK4

is a	snp
is	mentioned by
dbSNP	rs587777104
dbSNP (classic)	rs587777104
ClinGen	rs587777104
ebi	rs587777104
HLI	rs587777104
Exac	rs587777104
Gnomad	rs587777104
Varsome	rs587777104
LitVar	rs587777104
Map	rs587777104
PheGenI	rs587777104
Biobank	rs587777104
1000 genomes	rs587777104
hgdp	rs587777104
ensembl	rs587777104
geneview	rs587777104
scholar	rs587777104
google	rs587777104
pharmgkb	rs587777104
gwascentral	rs587777104
openSNP	rs587777104
23andMe	rs587777104
SNPshot	rs587777104
SNPdbe	rs587777104
MSV3d	rs587777104
GWAS Ctlg	rs587777104

Max Magnitude

7

Also known as c.567dupG (p.Lys190Glufs), 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	Rs587777104(G;G)
Alt	Rs587777104(G;G)
Reference	Rs587777104(-;-)
Significance	Pathogenic
Disease	Familial pulmonary capillary hemangiomatosis
Variation	info
Gene	EIF2AK4
CLNDBN	Familial pulmonary capillary hemangiomatosis
Reversed	0
HGVS	NC_000015.9:g.40246158dupG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000083308.5,