Variant (rsID / SNP)

rs886044735

rs886044735 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,508,989. Clinical significance in the table: Pathogenic.

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Reference-table entries

ABCA4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 1:94508989
Cytoband: 1p22.1
HGVS: NM_000350.3(ABCA4):c.3093del (p.Gly1032fs)

Associated conditions / phenotypes

Severe early-childhood-onset retinal dystrophy|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.