rs398123489
From SNPedia
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 |
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, |