RS398123489 BCKDHA
Upload your DNA to see your genotype for this variant.
What This Variant Does
"rs398123489, also known as c.117delC and p.Arg40Glyfs, is a mutation in the BCKDHA gene on chromosom...
Associated Conditions
Maple syrup urine disease
Maple syrup urine disease type 1A
Maple syrup urine disease
Maple syrup urine disease type 1A
Inborn genetic diseases
Likely inborn error of metabolism
Maple syrup urine disease
Maple syrup urine disease
Maple syrup urine disease type 1A
Maple syrup urine disease
Maple syrup urine disease type 1A
Inborn genetic diseases
Likely inborn error of metabolism
Maple syrup urine disease
Other Variants in BCKDHA