Variant (rsID / SNP)

rs104893614

rs104893614 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNGA3. Location: chromosome 2, position 99,012,481. 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: 2:99012481
Cytoband: 2q11.2
HGVS: NM_001298.3(CNGA3):c.848G>A (p.Arg283Gln)
Allele change: Missense_R283Q

Associated conditions / phenotypes

Achromatopsia 2|Achromatopsia|Retinal dystrophy

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.