Variant (rsID / SNP)
rs587777048
rs587777048 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ODAD2. Location: chromosome 10, position 28,151,450. Clinical significance in the table: Pathogenic.
Reference-table entries
ODAD2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 10:28151450
- Cytoband
- 10p12.1
- HGVS
- NM_018076.5(ODAD2):c.2712del (p.Ile905fs)
Associated conditions / phenotypes
Primary ciliary dyskinesia 23
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.