Variant (rsID / SNP)

rs886039882

rs886039882 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,544,163. 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: 1:94544163
Cytoband: 1p22.1
HGVS: NM_000350.3(ABCA4):c.1339C>T (p.Gln447Ter)
Allele change: Nonsense_Q447X

Associated conditions / phenotypes

Cone-rod dystrophy 3

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.