Have questions? Visit https://www.reddit.com/r/SNPedia

rs587777104

来自SNPedia
跳转至:导航搜索

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


Make rs587777104(-;-)
ReferenceGRCh38 38.1/142
Chromosome15
Position39953957
GeneEIF2AK4
is asnp
is mentioned by
dbSNPrs587777104
ebirs587777104
HLIrs587777104
Exacrs587777104
Varsomers587777104
Maprs587777104
PheGenIrs587777104
hapmaprs587777104
1000 genomesrs587777104
hgdprs587777104
ensemblrs587777104
gopubmedrs587777104
geneviewrs587777104
scholarrs587777104
googlers587777104
pharmgkbrs587777104
gwascentralrs587777104
openSNPrs587777104
23andMers587777104
23andMe allrs587777104
SNP Nexus

SNPshotrs587777104
SNPdbers587777104
MSV3drs587777104
GWAS Ctlgrs587777104
Max Magnitude7

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 24135949OA-icon.png]

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 RCV000083308.4,