Database of Pathogenic Variants
Home
Variants
Diseases
Genes
About
Disease Detail
Disease Name
3-methylcrotonoyl-CoA carboxylase 1 deficiency
OMIM:210200
MedGen:C0268600
MedGen:CN028786
Associated Genes and Variants
MCCC1
NM_020166.4:c.1380T>G
NM_020166.4:c.1750C>T
NM_020166.4:c.901_902delAA