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Variant (rsID / SNP)

rs61750563

ABCA4

rs61750563 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,485,257. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ABCA4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:94485257
Cytoband
1p22.1
HGVS
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile)
Allele change
Missense_V1693I

Associated conditions / phenotypes

Retinal dystrophy|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.