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Variant (rsID / SNP)

rs104893620

CNGA3

rs104893620 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNGA3. Location: chromosome 2, position 99,012,462. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CNGA3Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
2:99012462
Cytoband
2q11.2
HGVS
NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys)
Allele change
Missense_R277C

Associated conditions / phenotypes

Achromatopsia 2|Achromatopsia|Macular degeneration|Photophobia|Color vision defect

Public references

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