Variant (rsID / SNP)
rs16981988
rs16981988 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ODAD1. Location: chromosome 19, position 48,821,757. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
ODAD1Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:48821757
- Cytoband
- 19q13.33
- HGVS
- NM_001364171.2(ODAD1):c.247C>T (p.Arg83Trp)
- Allele change
- Missense_R83W
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.