Variant (rsID / SNP)

rs139743343

rs139743343 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAAF1. Location: chromosome 16, position 84,189,232. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DNAAF1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 16:84189232
Cytoband: 16q24.1
HGVS: NM_178452.6(DNAAF1):c.619C>G (p.Leu207Val)
Allele change: Missense_L207V

Associated conditions / phenotypes

Primary ciliary dyskinesia|Primary ciliary dyskinesia 13

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.