Gene entry
AMACR
alpha-methylacyl-CoA racemase
- Chromosome
- 5
- Cytoband
- 5p13.2
- Variants (rsID)
- 13
AMACR is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5p13.2). Its official name is “alpha-methylacyl-CoA racemase”. The reference table lists 13 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs10941112Benignsingle nucleotide variantAlpha-methylacyl-CoA racemase deficiency|Congenital bile acid synthesis defect 4
- rs2287939Benignsingle nucleotide variantAlpha-methylacyl-CoA racemase deficiency|Congenital bile acid synthesis defect 4
- rs9282594Benignsingle nucleotide variantAlpha-methylacyl-CoA racemase deficiency
- rs181341030Conflicting interpretationssingle nucleotide variantMitochondrial complex I deficiency|Alpha-methylacyl-CoA racemase deficiency|Congenital bile acid synthesis defect 4|Alpha-methylacyl-CoA racemase deficiency
- rs121917814Pathogenicsingle nucleotide variantCongenital bile acid synthesis defect 4|Alpha-methylacyl-CoA racemase deficiency
- rs121917816Pathogenicsingle nucleotide variantCongenital bile acid synthesis defect 4
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.