Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

ABCG5

ATP binding cassette subfamily G member 5

Chromosome
2
Cytoband
2p21
Variants (rsID)
6

ABCG5 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2p21). Its official name is “ATP binding cassette subfamily G member 5”. The reference table lists 6 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

5 reference-table entries with clinical significance.

  • rs141828689Conflicting interpretationssingle nucleotide variantSitosterolemia|Sitosterolemia 1
  • rs144973796Conflicting interpretationssingle nucleotide variantSitosterolemia 1|Sitosterolemia
  • rs145164937Conflicting interpretationssingle nucleotide variantSitosterolemia|Sitosterolemia 1|Hyperuricemic nephropathy, familial juvenile type 4
  • rs119480069Pathogenicsingle nucleotide variantSitosterolemia 2|Sitosterolemia
  • rs199984328Uncertain significancesingle nucleotide variant

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.