Variant: rs201780665

present in Gene: CCDC39 present in Chromosome: 3 Position on Chromosome: 180642072 Alleles of this Variant: G/A;T

rs201780665 in CCDC39 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 24498942 2014 The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia.