Variant (rsID / SNP)
rs61752391
rs61752391 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,544,185. Clinical significance in the table: Pathogenic.
Reference-table entries
ABCA4Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:94544185
- Cytoband
- 1p22.1
- HGVS
- NM_000350.3(ABCA4):c.1317G>A (p.Trp439Ter)
- Allele change
- Nonsense_W439X
Associated conditions / phenotypes
Retinal dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.