Variant (rsID / SNP)
rs61752423
rs61752423 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,502,760. Clinical significance in the table: Pathogenic.
Reference-table entries
ABCA4Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:94502760
- Cytoband
- 1p22.1
- HGVS
- NM_000350.3(ABCA4):c.3754G>T (p.Glu1252Ter)
- Allele change
- Nonsense_E1252X
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.