Variant (rsID / SNP)

rs201223321

rs201223321 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,520,688. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

ABCA4Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:94520688
Cytoband: 1p22.1
HGVS: NM_000350.3(ABCA4):c.2566T>A (p.Tyr856Asn)
Allele change: Missense_Y856N

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.