Variant (rsID / SNP)
rs121917745
rs121917745 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPE65. Location: chromosome 1, position 68,895,518. Clinical significance in the table: Pathogenic.
Reference-table entries
RPE65Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:68895518
- Cytoband
- 1p31.3
- HGVS
- NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)
- Allele change
- Missense_R515W
Associated conditions / phenotypes
Retinitis pigmentosa 20|Leber congenital amaurosis 2|Retinitis pigmentosa|Leber congenital amaurosis 2|Retinitis pigmentosa 20|Leber congenital amaurosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.