Variant (rsID / SNP)

rs78292723

rs78292723 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNGB1. Location: chromosome 16, position 57,957,240. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CNGB1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 16:57957240
Cytoband: 16q21
HGVS: NM_001297.5(CNGB1):c.1580C>T (p.Ala527Val)
Allele change: Missense_A521V

Associated conditions / phenotypes

Retinitis pigmentosa

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.