Variant (rsID / SNP)
rs61752883
rs61752883 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPE65. Location: chromosome 1, position 68,906,680. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
RPE65Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:68906680
- Cytoband
- 1p31.3
- HGVS
- NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)
- Allele change
- Missense_D167Y
Associated conditions / phenotypes
Retinitis pigmentosa 20|RPE65-Related Disorders|Leber congenital amaurosis 2|Retinitis pigmentosa 20|Leber congenital amaurosis 2|Leber congenital amaurosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.