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rs186031457

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 3 Carrier of a pathogenic mutation for propionic acidemia
(T;T) 7.7 Propionic acidemia likely
ReferenceGRCh38.p7 38.3/149
Chromosome3
Position136256588
GenePCCB
is asnp
is mentioned by
dbSNPrs186031457
dbSNP (old)rs186031457
ClinGenrs186031457
ebirs186031457
HLIrs186031457
Exacrs186031457
Gnomadrs186031457
Varsomers186031457
Maprs186031457
PheGenIrs186031457
Biobankrs186031457
1000 genomesrs186031457
hgdprs186031457
ensemblrs186031457
gopubmedrs186031457
geneviewrs186031457
scholarrs186031457
googlers186031457
pharmgkbrs186031457
gwascentralrs186031457
openSNPrs186031457
23andMers186031457
23andMe allrs186031457
SNPshotrs186031457
SNPdbers186031457
MSV3drs186031457
GWAS Ctlgrs186031457
Max Magnitude7.7

rs186031457, also known as c.337C>T, p.Arg113Ter and R113X, represents a rare mutation in the PCCB gene on chromosome 3.

The minor allele is reported by a single submitter in ClinVar as being pathogenic for propionic acidemia, a recessively inherited condition.

ClinVar
Risk Rs186031457(T;T)
Alt Rs186031457(T;T)
Reference Rs186031457(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene PCCB
CLNDBN not provided
Reversed 0
HGVS NC_000003.11:g.135975430C>T
CLNSRC
CLNACC RCV000255741.2,