rs121964990

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	3	Carrier of a dihydrolipoamide dehydrogenase deficiency mutation (also known as Maple Syrup Urine disease type III)
(T;T)	5	Dihydrolipooamide Dehydrogenase Deficiency

Reference

GRCh38 38.1/141

Chromosome

7

Position

107915506

Gene

DLD

is a	snp
is	mentioned by
dbSNP	rs121964990
dbSNP (classic)	rs121964990
ClinGen	rs121964990
ebi	rs121964990
HLI	rs121964990
Exac	rs121964990
Gnomad	rs121964990
Varsome	rs121964990
LitVar	rs121964990
Map	rs121964990
PheGenI	rs121964990
Biobank	rs121964990
1000 genomes	rs121964990
hgdp	rs121964990
ensembl	rs121964990
geneview	rs121964990
scholar	rs121964990
google	rs121964990
pharmgkb	rs121964990
gwascentral	rs121964990
openSNP	rs121964990
23andMe	rs121964990
SNPshot	rs121964990
SNPdbe	rs121964990
MSV3d	rs121964990
GWAS Ctlg	rs121964990

Max Magnitude

5

aka c.685G>T (p.Gly229Cys or G229C)

23andMe name: i5003700

OMIM	238331
Desc
Variant	0006
Related	also

ClinVar
Risk	Rs121964990(T;T)
Alt	Rs121964990(T;T)
Reference	Rs121964990(G;G)
Significance	Pathogenic
Disease	Maple syrup urine disease not provided DLD-Related Disorders
Variation	info
Gene	DLD
CLNDBN	Maple syrup urine disease, type 3 not provided DLD-Related Disorders
Reversed	0
HGVS	NC_000007.13:g.107555951G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012744.17, RCV000185853.4, RCV000301987.1,