Variant (rsID / SNP)
rs61748519
rs61748519 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,467,441. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ABCA4Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:94467441
- Cytoband
- 1p22.1
- HGVS
- NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=)
- Allele change
- Synonymous_L2085L
Associated conditions / phenotypes
Stargardt Disease, Recessive|Retinitis Pigmentosa, Recessive|Cone-Rod Dystrophy, Recessive|Macular degeneration|Severe early-childhood-onset retinal dystrophy|ABCA4-Related Disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.