Variant (rsID / SNP)
rs200775946
rs200775946 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAAF3. Location: chromosome 19, position 55,672,513. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
DNAAF3Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:55672513
- Cytoband
- 19q13.42
- HGVS
- NM_001256715.2(DNAAF3):c.832G>A (p.Ala278Thr)
- Allele change
- Missense_A224T
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.