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

rs398123489

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 6 Maple Syrup Urine disease
(-;C) 3 carrier of one Maple Syrup Urine Disease allele
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome19
Position41410645
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs398123489
ebirs398123489
HLIrs398123489
Exacrs398123489
Varsomers398123489
Maprs398123489
PheGenIrs398123489
hapmaprs398123489
1000 genomesrs398123489
hgdprs398123489
ensemblrs398123489
gopubmedrs398123489
geneviewrs398123489
scholarrs398123489
googlers398123489
pharmgkbrs398123489
gwascentralrs398123489
openSNPrs398123489
23andMers398123489
23andMe allrs398123489
SNP Nexus

SNPshotrs398123489
SNPdbers398123489
MSV3drs398123489
GWAS Ctlgrs398123489
Max Magnitude6

rs398123489, also known as c.117delC and p.Arg40Glyfs, is a mutation in the BCKDHA gene on chromosome 19.

The rare rs398123489(-) allele, representing the deletion of the C normally at this position, is considered causative for Maple Syrup Urine Disease when inherited in two copies.[PMID 19456321]

ClinVar
Risk rs398123489(;)
Alt rs398123489(;)
Reference rs398123489(C;C)
Significance Pathogenic
Disease not provided Maple syrup urine disease
Variation info
Gene BCKDHA
CLNDBN not provided Maple syrup urine disease
Reversed 0
HGVS NC_000019.9:g.41916550delC
CLNSRC HGMD
CLNACC RCV000079223.3, RCV000175640.1,