RS398124292 MMACHC

Health Risk Chr 1:45507544
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What This Variant Does
"CLNSIG=5
Associated Conditions
Cobalamin C disease
Disorders of Intracellular Cobalamin Metabolism
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA
cblC TYPE
DIGENIC
Atypical hemolytic-uremic syndrome
See cases
Inborn genetic diseases
MMACHC-related disorder
Methylmalonic aciduria and homocystinuria
Cobalamin C disease
Disorders of Intracellular Cobalamin Metabolism
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA
cblC TYPE
DIGENIC
Other Variants in MMACHC
rs121918240 rs121918241 rs121918242 rs121918243 rs587776889 rs370596113 rs1305170860 rs398124294 rs398124295 rs398124296
Ask Dr. Hemsworth about this variant