Database of Pathogenic Variants
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Gene Detail
Gene Symbol
MCCC1
Gene:56922
HGNC:6936
Gene Name
methylcrotonyl-CoA carboxylase subunit 1
Chromosome
3
Cytogenetic Band
q27.1
RefSeq Accession
NM_020166
Associated Diseases
3-methylcrotonoyl-CoA carboxylase 1 deficiency
Associated Variants
NM_020166.4:c.1750C>T
NM_020166.4:c.1380T>G
NM_020166.4:c.901_902delAA