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Variant (rsID / SNP)

rs61748556

ABCA4

rs61748556 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,528,819. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ABCA4Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:94528819
Cytoband
1p22.1
HGVS
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys)
Allele change
Missense_R537C

Associated conditions / phenotypes

Severe early-childhood-onset retinal dystrophy|Macular dystrophy|Retinal dystrophy

Public references

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