Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

CA1

carbonic anhydrase 1

Chromosome
8
Cytoband
8q21.2
Variants (rsID)
14

CA1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 8 (region 8q21.2). Its official name is “carbonic anhydrase 1”. The reference table lists 14 variants (rsID) for this gene.

Clinically classified variants

1 reference-table entries with clinical significance.

  • rs121909578Pathogenicsingle nucleotide variantCarbonic anhydrase I deficiency

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.