Variant (rsID / SNP)
rs749526785
rs749526785 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,463,398. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
ABCA4Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 1:94463398
- Cytoband
- 1p22.1
- HGVS
- NM_000350.3(ABCA4):c.6729+5_6729+19del
Associated conditions / phenotypes
Cone-rod dystrophy 3|Retinitis pigmentosa|Retinitis pigmentosa 19|Retinal dystrophy|Age related macular degeneration 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.