Variant (rsID / SNP)
rs117830543
rs117830543 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH11. Location: chromosome 7, position 21,641,058. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
DNAH11Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:21641058
- Cytoband
- 7p15.3
- HGVS
- NM_001277115.2(DNAH11):c.3470T>G (p.Leu1157Arg)
- Allele change
- Missense_L1157R
Associated conditions / phenotypes
Primary ciliary dyskinesia|Primary ciliary dyskinesia 7
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.