Variant (rsID / SNP)

rs104893619

rs104893619 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNGA3. Location: chromosome 2, position 99,013,218. Clinical significance in the table: Pathogenic.

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Reference-table entries

CNGA3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:99013218
Cytoband: 2q11.2
HGVS: NM_001298.3(CNGA3):c.1585G>A (p.Val529Met)
Allele change: Missense_V529M

Associated conditions / phenotypes

Achromatopsia 2|Achromatopsia

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.