Variant (rsID / SNP)
rs76157638
rs76157638 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,517,254. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:94517254
- Cytoband
- 1p22.1
- HGVS
- NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
- Allele change
- Missense_G863A
Associated conditions / phenotypes
Cone-rod dystrophy 3|Severe early-childhood-onset retinal dystrophy|Abnormal macular morphology|Peripheral neuropathy|Retinal dystrophy|Inborn genetic diseases|Stargardt disease|Retinitis pigmentosa|Cone-rod dystrophy|Age related macular degeneration 2|Age-related macular degeneration|Cone-rod dystrophy 3|Retinitis pigmentosa 19
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.