Gene entry
MCCC2
methylcrotonyl-CoA carboxylase subunit 2
- Chromosome
- 5
- Cytoband
- 5q13.2
- Variants (rsID)
- 12
MCCC2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q13.2). Its official name is “methylcrotonyl-CoA carboxylase subunit 2”. The reference table lists 12 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs119103222Conflicting interpretationssingle nucleotide variant3-methylcrotonyl-CoA carboxylase 2 deficiency
- rs144203670Conflicting interpretationssingle nucleotide variant3-methylcrotonyl-CoA carboxylase 2 deficiency|Methylcrotonyl-CoA carboxylase deficiency
- rs186132078Conflicting interpretationssingle nucleotide variant3-methylcrotonyl-CoA carboxylase 2 deficiency
- rs119103219Pathogenicsingle nucleotide variant3-methylcrotonyl-CoA carboxylase 2 deficiency
- rs119103221Pathogenicsingle nucleotide variant3-methylcrotonyl-CoA carboxylase 2 deficiency
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.