Variant (rsID / SNP)

rs2297669

rs2297669 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,466,625. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ABCA4Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:94466625
Cytoband: 1p22.1
HGVS: NM_000350.3(ABCA4):c.6319C>A (p.Arg2107Ser)
Allele change: Missense_R2107C

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.