Gene entry
CA4
carbonic anhydrase 4
- Chromosome
- 17
- Cytoband
- 17q23.1
- Variants (rsID)
- 9
CA4 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17q23.1). Its official name is “carbonic anhydrase 4”. The reference table lists 9 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs117704637Benignsingle nucleotide variantRetinitis pigmentosa
- rs104894559Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa 17|Retinitis pigmentosa
- rs2229178Conflicting interpretationssingle nucleotide variant
- rs121434551Uncertain significancesingle nucleotide variantRetinitis pigmentosa 17
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.