Variant: rs1560079213

present in Gene: CCDC39;TTC14 present in Chromosome: 3 Position on Chromosome: 180616697 Alleles of this Variant: T/-

rs1560079213 in CCDC39;TTC14 gene and Ciliary Motility Disorders PMID 23255504 2013 Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.

PMID 21131972 2011 CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.