Variant: rs863223325

present in Gene: CCDC65 present in Chromosome: 12 Position on Chromosome: 48918751 Alleles of this Variant: AT/-

rs863223325 in CCDC65 gene and Ciliary Motility Disorders PMID 25802884 2015 Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.

PMID 23991085 2013 CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia.

PMID 24094744 2013 Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.