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Variant (rsID / SNP)

rs1800553

ABCA4

rs1800553 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,473,807. 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
1:94473807
Cytoband
1p22.1
HGVS
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
Allele change
Missense_G1961E

Associated conditions / phenotypes

Severe early-childhood-onset retinal dystrophy|Cone-rod dystrophy 3|MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO|ABCA4-Related Disorders|Macular dystrophy|Retinal dystrophy|Inborn genetic diseases|Age related macular degeneration 2|Stargardt disease|Severe early-childhood-onset retinal dystrophy|Cone-rod dystrophy 3|Retinitis pigmentosa 19|Joubert syndrome 5|Retinitis pigmentosa 19|Cone-rod dystrophy|Retinitis pigmentosa

Public references

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