Variant (rsID / SNP)
rs2274321
rs2274321 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPE65. Location: chromosome 1, position 68,906,514. Clinical significance in the table: Benign.
Reference-table entries
RPE65Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:68906514
- Cytoband
- 1p31.3
- HGVS
- NM_000329.3(RPE65):c.643+22C>T
- Allele change
- Silent
Associated conditions / phenotypes
Leber congenital amaurosis 2|Retinitis pigmentosa 87 with choroidal involvement
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.