Variant (rsID / SNP)
rs61750560
rs61750560 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,486,860. Clinical significance in the table: Pathogenic.
Reference-table entries
ABCA4Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:94486860
- Cytoband
- 1p22.1
- HGVS
- NM_000350.3(ABCA4):c.4954T>G (p.Tyr1652Asp)
- Allele change
- Missense_Y1652D
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.