Variant: rs1321423759 

    present in Gene: CPLANE1
    present in Chromosome: 5
    Position on Chromosome: 37244373
    Alleles of this Variant: A/T

rs1321423759 in CPLANE1 gene and JOUBERT SYNDROME 17 PMID 22425360 2012 Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

rs1321423759 in CPLANE1 gene and OROFACIODIGITAL SYNDROME VI PMID 22425360 2012 Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.