Variant (rsID / SNP)
rs1801269
rs1801269 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,506,901. 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
- 1:94506901
- Cytoband
- 1p22.1
- HGVS
- NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu)
- Allele change
- Missense_R1129L
Associated conditions / phenotypes
Severe early-childhood-onset retinal dystrophy|Cone-rod dystrophy 3|Age related macular degeneration 2|Severe early-childhood-onset retinal dystrophy|Retinitis pigmentosa 19|Retinal dystrophy|Age related macular degeneration 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.