Gene entry
ABCA5
ATP binding cassette subfamily A member 5
- Chromosome
- 17
- Cytoband
- 17q24.3
- Variants (rsID)
- 24
ABCA5 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17q24.3). Its official name is “ATP binding cassette subfamily A member 5”. The reference table lists 24 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs199753304Pathogenicsingle nucleotide variantGingival fibromatosis-hypertrichosis syndrome|Inborn genetic diseases
- rs12449649Not classifiedsynonymous_variant
- rs17686569Not classifiedmissense_variant
- rs536009Not classifiedmissense_variantOvarian Cancer|Ovarian Epithelial Cancer
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.
