Gene entry
MCCC1
methylcrotonyl-CoA carboxylase subunit 1
- Chromosome
- 3
- Cytoband
- 3q27.1
- Variants (rsID)
- 20
MCCC1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3q27.1). Its official name is “methylcrotonyl-CoA carboxylase subunit 1”. The reference table lists 20 variants (rsID) for this gene.
Clinically classified variants
11 reference-table entries with clinical significance.
- rs1502762Benignsingle nucleotide variant
- rs2270968Benignsingle nucleotide variant3-methylcrotonyl-CoA carboxylase 1 deficiency
- rs2270969Benignsingle nucleotide variant3-methylcrotonyl-CoA carboxylase 1 deficiency
- rs34749281Benignsingle nucleotide variant3-methylcrotonyl-CoA carboxylase 1 deficiency|Methylcrotonyl-CoA carboxylase deficiency
- rs115605600Conflicting interpretationssingle nucleotide variant3-methylcrotonyl-CoA carboxylase 1 deficiency
- rs138480247Conflicting interpretationssingle nucleotide variant3-methylcrotonyl-CoA carboxylase 1 deficiency
- rs144230304Conflicting interpretationssingle nucleotide variant3-methylcrotonyl-CoA carboxylase 1 deficiency
- rs199517715Conflicting interpretationssingle nucleotide variant3-methylcrotonyl-CoA carboxylase 1 deficiency
- rs119103212Pathogenicsingle nucleotide variant3-methylcrotonyl-CoA carboxylase 1 deficiency|Methylcrotonyl-CoA carboxylase deficiency
- rs119103213Pathogenicsingle nucleotide variant3-methylcrotonyl-CoA carboxylase 1 deficiency|Methylcrotonyl-CoA carboxylase deficiency
- rs147741073Pathogenicsingle nucleotide variant
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.