Variant (rsID / SNP)
rs12927214
rs12927214 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNGB1. Location: chromosome 16, position 57,957,216. Clinical significance in the table: Benign.
Reference-table entries
CNGB1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:57957216
- Cytoband
- 16q21
- HGVS
- NM_001297.5(CNGB1):c.1604T>C (p.Val535Ala)
- Allele change
- Missense_V529A
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.