Variant (rsID / SNP)
rs61751383
rs61751383 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,471,056. 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
- 1:94471056
- Cytoband
- 1p22.1
- HGVS
- NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)
- Allele change
- Nonsense_R2030X
Associated conditions / phenotypes
Retinal dystrophy, early-onset severe|Retinal dystrophy|Severe early-childhood-onset retinal dystrophy|Retinitis pigmentosa 19|Cone-rod dystrophy 3|Age related macular degeneration 2|Severe early-childhood-onset retinal dystrophy|Stargardt disease|Retinitis pigmentosa 19
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.