Variant (rsID / SNP)
rs61750641
rs61750641 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,471,055. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
ABCA4Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:94471055
- Cytoband
- 1p22.1
- HGVS
- NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)
- Allele change
- Missense_R2030Q
Associated conditions / phenotypes
Severe early-childhood-onset retinal dystrophy|Severe early-childhood-onset retinal dystrophy|Retinitis pigmentosa 19|Cone-rod dystrophy 3|Age related macular degeneration 2|Vitreoretinopathy|Macular dystrophy|Progressive cone dystrophy (without rod involvement)|Retinal dystrophy|Age related macular degeneration 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.