Variant (rsID / SNP)
rs61754044
rs61754044 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,496,548. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
ABCA4Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:94496548
- Cytoband
- 1p22.1
- HGVS
- NM_000350.3(ABCA4):c.4253+4C>T
- Allele change
- Silent
Associated conditions / phenotypes
Inborn genetic diseases|Retinal dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.