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Variant (rsID / SNP)

rs61749423

ABCA4

rs61749423 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,526,212. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ABCA4Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:94526212
Cytoband
1p22.1
HGVS
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)
Allele change
Nonsense_R681X

Associated conditions / phenotypes

Benign concentric annular macular dystrophy|Severe early-childhood-onset retinal dystrophy|Leber congenital amaurosis|Retinal dystrophy|Age related macular degeneration 2

Public references

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