rs137852871

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	3	Carrier of a maple syrup urine disease mutation
(G;G)	0	common in clinvar

Make rs137852871(A;A)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41422643

Gene

BCKDHA

is a	snp
is	mentioned by
dbSNP	rs137852871
dbSNP (classic)	rs137852871
ClinGen	rs137852871
ebi	rs137852871
HLI	rs137852871
Exac	rs137852871
Gnomad	rs137852871
Varsome	rs137852871
LitVar	rs137852871
Map	rs137852871
PheGenI	rs137852871
Biobank	rs137852871
1000 genomes	rs137852871
hgdp	rs137852871
ensembl	rs137852871
geneview	rs137852871
scholar	rs137852871
google	rs137852871
pharmgkb	rs137852871
gwascentral	rs137852871
openSNP	rs137852871
23andMe	rs137852871
SNPshot	rs137852871
SNPdbe	rs137852871
MSV3d	rs137852871
GWAS Ctlg	rs137852871

Max Magnitude

3

aka c.868G>A (p.Gly290Arg or G290R)

OMIM	608348
Desc
Variant	0003
Related	also

ClinVar
Risk	rs137852871(A;A) rs137852871(C;C)
Alt	rs137852871(A;A) rs137852871(C;C)
Reference	Rs137852871(G;G)
Significance	Pathogenic
Disease	MAPLE SYRUP URINE DISEASE not provided Maple syrup urine disease
Variation	info
Gene	BCKDHA
CLNDBN	MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA not provided Maple syrup urine disease
Reversed	0
HGVS	NC_000019.9:g.41928548G>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002475.3, RCV000079258.3, RCV000179775.2,