Variant (rsID / SNP)
rs41312104
rs41312104 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPGR. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
RPGRBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Cytoband
- Xp11.4
- HGVS
- NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met)
- Allele change
- Missense_T533M
Associated conditions / phenotypes
Primary ciliary dyskinesia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.