Variant (rsID / SNP)
rs146392250
rs146392250 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH5. Location: chromosome 5, position 13,820,544. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
DNAH5Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:13820544
- Cytoband
- 5p15.2
- HGVS
- NM_001369.3(DNAH5):c.6752C>T (p.Thr2251Met)
- Allele change
- Missense_T2251M
Associated conditions / phenotypes
Primary ciliary dyskinesia|Primary ciliary dyskinesia 3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.