Variant (rsID / SNP)
rs61751407
rs61751407 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,476,351. 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
- 1:94476351
- Cytoband
- 1p22.1
- HGVS
- NM_000350.3(ABCA4):c.5714+5G>A
- Allele change
- Silent
Associated conditions / phenotypes
Retinitis pigmentosa 19|Severe early-childhood-onset retinal dystrophy|Cone-rod dystrophy 3|Stargardt disease|Cone-rod dystrophy|Stargardt disease|ABCA4-Related Disorders|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.