rs398123489

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	6	Maple Syrup Urine disease
(-;C)	3	carrier of one Maple Syrup Urine Disease allele
(C;C)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

19

Position

41410645

Gene

BCKDHA

is a	snp
is	mentioned by
dbSNP	rs398123489
dbSNP (classic)	rs398123489
ClinGen	rs398123489
ebi	rs398123489
HLI	rs398123489
Exac	rs398123489
Gnomad	rs398123489
Varsome	rs398123489
LitVar	rs398123489
Map	rs398123489
PheGenI	rs398123489
Biobank	rs398123489
1000 genomes	rs398123489
hgdp	rs398123489
ensembl	rs398123489
geneview	rs398123489
scholar	rs398123489
google	rs398123489
pharmgkb	rs398123489
gwascentral	rs398123489
openSNP	rs398123489
23andMe	rs398123489
SNPshot	rs398123489
SNPdbe	rs398123489
MSV3d	rs398123489
GWAS Ctlg	rs398123489

Max Magnitude

6

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,