Variant (rsID / SNP)
rs143720091
rs143720091 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RGR. Location: chromosome 10, position 86,017,767. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
RGRConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:86017767
- Cytoband
- 10q23.1
- HGVS
- NM_001012720.2(RGR):c.744+5A>G
- Allele change
- Silent
Associated conditions / phenotypes
Retinitis pigmentosa|Retinitis pigmentosa 44
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
