Variant (rsID / SNP)
rs61750142
rs61750142 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,496,008. 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
- 1:94496008
- Cytoband
- 1p22.1
- HGVS
- NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His)
- Allele change
- Missense_R1443H
Associated conditions / phenotypes
Severe early-childhood-onset retinal dystrophy|ABCA4-Related Disorders|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.