present in Gene: B9D1
present in Chromosome: 17
Position on Chromosome: 19343795
Alleles of this Variant: C/G;T
rs886038205 in
B9D1 gene and
JOUBERT SYNDROME 27
PMID 24886560 2014 Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.