Gene entry
CYP27A1
cytochrome P450 family 27 subfamily A member 1
- Chromosome
- 2
- Cytoband
- 2q35
- Variants (rsID)
- 22
CYP27A1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q35). Its official name is “cytochrome P450 family 27 subfamily A member 1”. The reference table lists 22 variants (rsID) for this gene.
Clinically classified variants
16 reference-table entries with clinical significance.
- rs114768494Benignsingle nucleotide variantCholestanol storage disease
- rs2229381Benignsingle nucleotide variantCholestanol storage disease
- rs61733619Benignsingle nucleotide variantCholestanol storage disease
- rs144018609Conflicting interpretationssingle nucleotide variantCholestanol storage disease
- rs181649030Conflicting interpretationssingle nucleotide variantCholestanol storage disease
- rs199891090Conflicting interpretationssingle nucleotide variantCholestanol storage disease
- rs200883871Conflicting interpretationssingle nucleotide variantCholestanol storage disease
- rs201500822Conflicting interpretationssingle nucleotide variantCholestanol storage disease
- rs41272687Conflicting interpretationssingle nucleotide variantCholestanol storage disease
- rs121908097Pathogenicsingle nucleotide variantCholestanol storage disease
- rs121908098Pathogenicsingle nucleotide variantCholestanol storage disease
- rs121908099Pathogenicsingle nucleotide variantCholestanol storage disease|Intellectual disability
- rs121908102Pathogenicsingle nucleotide variantCholestanol storage disease
- rs72551313Pathogenicsingle nucleotide variantCholestanol storage disease
- rs72551314Pathogenicsingle nucleotide variantCholestanol storage disease
- rs201107032Uncertain significancesingle nucleotide variantCholestanol storage disease
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.