Variant (rsID / SNP)
rs61997250
rs61997250 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNGB1. Location: chromosome 16, position 58,001,086. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
CNGB1Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:58001086
- Cytoband
- 16q21
- HGVS
- NM_001297.5(CNGB1):c.105G>A (p.Ala35=)
- Allele change
- Synonymous_A35A
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.