Variant (rsID / SNP)
rs41292677
rs41292677 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,467,548. 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
- 1:94467548
- Cytoband
- 1p22.1
- HGVS
- NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)
- Allele change
- Missense_V2050L
Associated conditions / phenotypes
Severe early-childhood-onset retinal dystrophy|Cone-Rod Dystrophy, Recessive|Stargardt Disease, Recessive|Macular degeneration|Retinitis Pigmentosa, Recessive|Cone dystrophy|ABCA4-Related Disorders|Retinitis pigmentosa|Retinal dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.