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Variant (rsID / SNP)

rs61753038

ABCA4

rs61753038 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,471,026. Clinical significance in the table: Pathogenic.

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Reference-table entries

ABCA4Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:94471026
Cytoband
1p22.1
HGVS
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter)
Allele change
Nonsense_R2040X

Associated conditions / phenotypes

Stargardt disease|Retinal dystrophy|Severe early-childhood-onset retinal dystrophy|Retinitis pigmentosa 19|Cone-rod dystrophy 3|Age related macular degeneration 2|Severe early-childhood-onset retinal dystrophy

Public references

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