Variant (rsID / SNP)

rs76537883

rs76537883 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNGA1. Location: chromosome 4, position 47,954,624. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CNGA1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 4:47954624
Cytoband: 4p12
HGVS: NM_001379270.1(CNGA1):c.83G>A (p.Arg28Gln)
Allele change: Silent

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.