Variant (rsID / SNP)
rs114518437
rs114518437 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,486,889. 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
- 1:94486889
- Cytoband
- 1p22.1
- HGVS
- NM_000350.3(ABCA4):c.4925G>T (p.Ser1642Ile)
- Allele change
- Missense_S1642I
Associated conditions / phenotypes
Cone-Rod Dystrophy, Recessive|Retinitis Pigmentosa, Recessive|Macular degeneration|Stargardt Disease, Recessive|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.