Genetics University — Research, Education, Medical Genetics
Knowledge Hub

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.