Variant (rsID / SNP)
rs1800728
rs1800728 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,476,951. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:94476951
- Cytoband
- 1p22.1
- HGVS
- NM_000350.3(ABCA4):c.5461-10T>C
- Allele change
- Silent
Associated conditions / phenotypes
Cone-rod dystrophy 3|Severe early-childhood-onset retinal dystrophy|Benign concentric annular macular dystrophy|Retinal dystrophy|Macular dystrophy|Age related macular degeneration 2|Severe early-childhood-onset retinal dystrophy|Retinitis pigmentosa 19|Age related macular degeneration 2|Cone-rod dystrophy 3|Stargardt disease|Retinitis pigmentosa|Retinitis pigmentosa 19
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.