Variant (rsID / SNP)
rs58331765
rs58331765 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,512,602. 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
- 1:94512602
- Cytoband
- 1p22.1
- HGVS
- NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)
- Allele change
- Missense_V931M
Associated conditions / phenotypes
Severe early-childhood-onset retinal dystrophy|Retinitis Pigmentosa, Recessive|Macular degeneration|Stargardt Disease, Recessive|Cone-Rod Dystrophy, Recessive|Stargardt disease|ABCA4-Related Disorders|Retinal dystrophy|Retinitis pigmentosa 19
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.