Variant (rsID / SNP)
rs76788887
rs76788887 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNGB1. Location: chromosome 16, position 57,993,947. 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
- 16:57993947
- Cytoband
- 16q21
- HGVS
- NM_001297.5(CNGB1):c.606A>G (p.Glu202=)
- Allele change
- Synonymous_E196E
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.