rs587777207

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

40016508

Gene

EIF2AK4

is a	snp
is	mentioned by
dbSNP	rs587777207
dbSNP (classic)	rs587777207
ClinGen	rs587777207
ebi	rs587777207
HLI	rs587777207
Exac	rs587777207
Gnomad	rs587777207
Varsome	rs587777207
LitVar	rs587777207
Map	rs587777207
PheGenI	rs587777207
Biobank	rs587777207
1000 genomes	rs587777207
hgdp	rs587777207
ensembl	rs587777207
geneview	rs587777207
scholar	rs587777207
google	rs587777207
pharmgkb	rs587777207
gwascentral	rs587777207
openSNP	rs587777207
23andMe	rs587777207
SNPshot	rs587777207
SNPdbe	rs587777207
MSV3d	rs587777207
GWAS Ctlg	rs587777207

Max Magnitude

7

Also known as c.3766C>T (p.Arg1256Ter), 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	Rs587777207(T;T)
Alt	Rs587777207(T;T)
Reference	Rs587777207(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.40308709C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000087756.5,