rs121964992

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	3	Carrier of a dihydrolipoamide dehydrogenase deficiency mutation (also known as Maple Syrup Urine disease type III)
(G;G)	0	common in clinvar

Make rs121964992(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

107917349

Gene

DLD

is a	snp
is	mentioned by
dbSNP	rs121964992
dbSNP (classic)	rs121964992
ClinGen	rs121964992
ebi	rs121964992
HLI	rs121964992
Exac	rs121964992
Gnomad	rs121964992
Varsome	rs121964992
LitVar	rs121964992
Map	rs121964992
PheGenI	rs121964992
Biobank	rs121964992
1000 genomes	rs121964992
hgdp	rs121964992
ensembl	rs121964992
geneview	rs121964992
scholar	rs121964992
google	rs121964992
pharmgkb	rs121964992
gwascentral	rs121964992
openSNP	rs121964992
23andMe	rs121964992
SNPshot	rs121964992
SNPdbe	rs121964992
MSV3d	rs121964992
GWAS Ctlg	rs121964992

Max Magnitude

3

aka c.1123G>A (p.Glu375Lys or E375K)

OMIM	238331
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121964992(A;A)
Alt	rs121964992(A;A)
Reference	Rs121964992(G;G)
Significance	Pathogenic
Disease	Maple syrup urine disease not provided
Variation	info
Gene	DLD
CLNDBN	Maple syrup urine disease, type 3 not provided
Reversed	0
HGVS	NC_000007.13:g.107557794G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012751.23, RCV000185859.1,