rs587777102

plus

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

Reference

GRCh38 38.1/142

Chromosome

15

Position

39967718

Gene

EIF2AK4

is a	snp
is	mentioned by
dbSNP	rs587777102
dbSNP (classic)	rs587777102
ClinGen	rs587777102
ebi	rs587777102
HLI	rs587777102
Exac	rs587777102
Gnomad	rs587777102
Varsome	rs587777102
LitVar	rs587777102
Map	rs587777102
PheGenI	rs587777102
Biobank	rs587777102
1000 genomes	rs587777102
hgdp	rs587777102
ensembl	rs587777102
geneview	rs587777102
scholar	rs587777102
google	rs587777102
pharmgkb	rs587777102
gwascentral	rs587777102
openSNP	rs587777102
23andMe	rs587777102
SNPshot	rs587777102
SNPdbe	rs587777102
MSV3d	rs587777102
GWAS Ctlg	rs587777102

Max Magnitude

7

Also known as c.1392delT (p.Arg465Valfs), 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	Rs587777102(-;-)
Alt	Rs587777102(-;-)
Reference	Rs587777102(T;T)
Significance	Pathogenic
Disease	Familial pulmonary capillary hemangiomatosis
Variation	info
Gene	EIF2AK4
CLNDBN	Familial pulmonary capillary hemangiomatosis
Reversed	0
HGVS	NC_000015.9:g.40259919delT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000083306.6,