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Variant (rsID / SNP)

rs61752424

ABCA4

rs61752424 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,502,756. 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
1:94502756
Cytoband
1p22.1
HGVS
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met)
Allele change
Missense_T1253M

Associated conditions / phenotypes

Severe early-childhood-onset retinal dystrophy|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.