Variant (rsID / SNP)
rs61750566
rs61750566 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,485,172. Clinical significance in the table: Pathogenic.
Reference-table entries
ABCA4Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 1:94485172
- Cytoband
- 1p22.1
- HGVS
- NM_000350.3(ABCA4):c.5161_5162del (p.Thr1721fs)
Associated conditions / phenotypes
Severe early-childhood-onset retinal dystrophy|Retinal dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.