Variant (rsID / SNP)
rs202213517
rs202213517 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAI1. Location: chromosome 9, position 34,497,158. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
DNAI1Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:34497158
- Cytoband
- 9p13.3
- HGVS
- NM_012144.4(DNAI1):c.862C>T (p.Arg288Trp)
- Allele change
- Missense_R292W
Associated conditions / phenotypes
Primary ciliary dyskinesia|Kartagener syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.