Database of Pathogenic Variants
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Gene Detail
Gene Symbol
MCCC2
Gene:64087
HGNC:6937
Gene Name
methylcrotonyl-CoA carboxylase subunit 2
Chromosome
5
Cytogenetic Band
q13.2
RefSeq Accession
NM_001363147
Associated Diseases
3-methylcrotonoyl-CoA carboxylase 2 deficiency
Associated Variants
NM_022132.4:c.569A>G
NM_022132.4:c.592C>T
NM_022132.4:c.653_654delinsTT
NM_022132.4:c.838G>T
NM_022132.4:c.1054_1055delGG
NM_022132.4:c.1624_1625dupGG