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rs387907240

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 4 pityriasis rubra pilaris (PRP)
(C;T) 4 Pityriasis rubra pilaris (PRP)
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome17
Position80184030
GeneCARD14
is asnp
is mentioned by
dbSNPrs387907240
ebirs387907240
HLIrs387907240
Exacrs387907240
Varsomers387907240
Maprs387907240
PheGenIrs387907240
hapmaprs387907240
1000 genomesrs387907240
hgdprs387907240
ensemblrs387907240
gopubmedrs387907240
geneviewrs387907240
scholarrs387907240
googlers387907240
pharmgkbrs387907240
gwascentralrs387907240
openSNPrs387907240
23andMers387907240
23andMe allrs387907240
SNP Nexus

SNPshotrs387907240
SNPdbers387907240
MSV3drs387907240
GWAS Ctlgrs387907240
Max Magnitude4

rs387907240, also known as c.467T>C, p.Leu156Pro and L156P, represents a very rare mutation in the CARD14 gene on chromosome 17.

Found through sequencing of 2 unrelated 3-generation families with autosomal dominant pityriasis rubra pilaris, the rs387907240(C) mutation is considered causative for the condition.[PMID 22703878OA-icon.png]


ClinVar
Risk rs387907240(C;C)
Alt rs387907240(C;C)
Reference rs387907240(T;T)
Significance Pathogenic
Disease Pityriasis rubra pilaris
Variation info
Gene CARD14
CLNDBN Pityriasis rubra pilaris
Reversed 0
HGVS NC_000017.10:g.78157829T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000029229.2,