rs587777103

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

40016544

Gene

EIF2AK4

is a	snp
is	mentioned by
dbSNP	rs587777103
dbSNP (classic)	rs587777103
ClinGen	rs587777103
ebi	rs587777103
HLI	rs587777103
Exac	rs587777103
Gnomad	rs587777103
Varsome	rs587777103
LitVar	rs587777103
Map	rs587777103
PheGenI	rs587777103
Biobank	rs587777103
1000 genomes	rs587777103
hgdp	rs587777103
ensembl	rs587777103
geneview	rs587777103
scholar	rs587777103
google	rs587777103
pharmgkb	rs587777103
gwascentral	rs587777103
openSNP	rs587777103
23andMe	rs587777103
SNPshot	rs587777103
SNPdbe	rs587777103
MSV3d	rs587777103
GWAS Ctlg	rs587777103

Max Magnitude

7

Also known as c.3802C>T (p.Gln1268Ter), 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	Rs587777103(T;T)
Alt	Rs587777103(T;T)
Reference	Rs587777103(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.40308745C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000083307.5,