Variant (rsID / SNP)
rs1801686
rs1801686 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPGR. Clinical significance in the table: Benign.
Reference-table entries
RPGRBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Cytoband
- Xp11.4
- HGVS
- NM_001034853.2(RPGR):c.1164G>A (p.Ala388=)
- Allele change
- Synonymous_A388A
Associated conditions / phenotypes
Primary ciliary dyskinesia|X-linked cone-rod dystrophy 1|Macular degeneration, X-linked atrophic|Retinitis pigmentosa 3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.