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Variant (rsID / SNP)

rs6657239

ABCA4

rs6657239 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,564,483. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ABCA4Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
1:94564483
Cytoband
1p22.1
HGVS
NM_000350.3(ABCA4):c.635G>A (p.Arg212His)
Allele change
Missense_R212H

Associated conditions / phenotypes

Retinitis Pigmentosa, Recessive|Cone-Rod Dystrophy, Recessive|Stargardt Disease, Recessive|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.