rs121964990(G;T)
From SNPedia
Carrier of a dihydrolipoamide dehydrogenase deficiency mutation (also known as Maple Syrup Urine disease type III) |
Is a | genotype |
of | rs121964990 |
Gene | DLD |
Chromosome | 7 |
Position | 107,915,506 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
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 |
Unaffected in absence of a second DLD gene mutation