Variant (rsID / SNP)
rs117704637
rs117704637 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CA4. Location: chromosome 17, position 58,235,763. Clinical significance in the table: Benign.
Reference-table entries
CA4Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:58235763
- Cytoband
- 17q23.1
- HGVS
- NM_000717.5(CA4):c.700G>A (p.Val234Ile)
- Allele change
- Silent
Associated conditions / phenotypes
Retinitis pigmentosa
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.