Variant (rsID / SNP)
rs61751389
rs61751389 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,473,278. Clinical significance in the table: Pathogenic.
Reference-table entries
ABCA4Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 1:94473278
- Cytoband
- 1p22.1
- HGVS
- NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)
Associated conditions / phenotypes
Severe early-childhood-onset retinal dystrophy|Retinal dystrophy|Age related macular degeneration 2|maculopathy|Autosomal recessive retinitis pigmentosa|Retinitis pigmentosa 19|Cone-rod dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.