Variant: rs555421894 

    present in Gene: KIAA0586;TIMM9
    present in Chromosome: 14
    Position on Chromosome: 58428357
    Alleles of this Variant: -/C

rs555421894 in KIAA0586;TIMM9 gene and JOUBERT SYNDROME 23 PMID 26386044 2015 Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.

PMID 26096313 2015 KIAA0586 is Mutated in Joubert Syndrome.

rs555421894 in KIAA0586;TIMM9 gene and SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY PMID 26386044 2015 Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.

PMID 26096313 2015 KIAA0586 is Mutated in Joubert Syndrome.