Variant (rsID / SNP)
rs147912535
rs147912535 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH11. Location: chromosome 7, position 21,609,889. Clinical significance in the table: Benign.
Reference-table entries
DNAH11Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:21609889
- Cytoband
- 7p15.3
- HGVS
- NM_001277115.2(DNAH11):c.1397A>C (p.Lys466Thr)
- Allele change
- Missense_K466T
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.