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Variant (rsID / SNP)

rs104893615

CNGA3

rs104893615 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNGA3. Location: chromosome 2, position 99,013,302. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CNGA3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:99013302
Cytoband
2q11.2
HGVS
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg)
Allele change
Missense_G557R

Associated conditions / phenotypes

Achromatopsia 2|Achromatopsia|Retinal dystrophy

Public references

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