Variant (rsID / SNP)
rs62645948
rs62645948 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,576,999. Clinical significance in the table: Pathogenic.
Reference-table entries
ABCA4Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 1:94576999
- Cytoband
- 1p22.1
- HGVS
- NM_000350.3(ABCA4):c.296dup (p.Asn99fs)
Associated conditions / phenotypes
Severe early-childhood-onset retinal dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.