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Variant (rsID / SNP)

rs56357060

ABCA4

rs56357060 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,496,039. 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
1:94496039
Cytoband
1p22.1
HGVS
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile)
Allele change
Missense_V1433I

Associated conditions / phenotypes

Severe early-childhood-onset retinal dystrophy|ABCA4-Related Disorders

Public references

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