Variant (rsID / SNP)

rs61748521

rs61748521 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,463,425. 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: 1:94463425
Cytoband: 1p22.1
HGVS: NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val)
Allele change: Missense_L2241V

Associated conditions / phenotypes

Retinal dystrophy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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