Variant (rsID / SNP)
rs139131485
rs139131485 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAAF11. Location: chromosome 8, position 133,584,564. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
DNAAF11Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:133584564
- Cytoband
- 8q24.22
- HGVS
- NM_012472.6(DNAAF11):c.1391C>T (p.Pro464Leu)
- Allele change
- Silent
Associated conditions / phenotypes
Primary ciliary dyskinesia 19|Multiple sclerosis, susceptibility to
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.