Variant (rsID / SNP)
rs199825346
rs199825346 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MCIDAS. Location: chromosome 5, position 54,516,613. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MCIDASConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:54516613
- Cytoband
- 5q11.2
- HGVS
- NM_001190787.3(MCIDAS):c.739C>T (p.Arg247Trp)
- Allele change
- Missense_R247W
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.