Variant (rsID / SNP)
rs112217391
rs112217391 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH5. Location: chromosome 5, position 13,870,935. 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
- 5:13870935
- Cytoband
- 5p15.2
- HGVS
- NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr)
- Allele change
- Missense_A1259T
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.