Variant (rsID / SNP)

rs79889567

rs79889567 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNGB1. Location: chromosome 16, position 57,935,470. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CNGB1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:57935470
Cytoband: 16q21
HGVS: NM_001297.5(CNGB1):c.2854G>A (p.Val952Met)
Allele change: Missense_V946M

Associated conditions / phenotypes

Retinitis pigmentosa 45

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.