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Variant (rsID / SNP)

rs147415641

CNGA3

rs147415641 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNGA3. Location: chromosome 2, position 99,012,315. 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
2:99012315
Cytoband
2q11.2
HGVS
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys)
Allele change
Missense_E228K

Associated conditions / phenotypes

Achromatopsia|Achromatopsia 2

Public references

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