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Variant (rsID / SNP)

rs61750126

ABCA4

rs61750126 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,505,604. 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
1:94505604
Cytoband
1p22.1
HGVS
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg)
Allele change
Missense_L1201R

Associated conditions / phenotypes

Cone-rod dystrophy 3|Stargardt Disease, Recessive|Cone-Rod Dystrophy, Recessive|Retinitis Pigmentosa, Recessive|Severe early-childhood-onset retinal dystrophy|Macular degeneration|ABCA4-Related Disorders

Public references

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