Variant (rsID / SNP)
rs61750146
rs61750146 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,495,078. 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
- 1:94495078
- Cytoband
- 1p22.1
- HGVS
- NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)
- Allele change
- Missense_C1488R
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|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.