Variant: rs200799769 

    present in Gene: TMEM231
    present in Chromosome: 16
    Position on Chromosome: 75542641
    Alleles of this Variant: C/T

rs200799769 in TMEM231 gene and JOUBERT SYNDROME 20 PMID 27449316 2016 TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.

PMID 23012439 2012 Mutations in TMEM231 cause Joubert syndrome in French Canadians.

PMID 26477546 2015 Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

rs200799769 in TMEM231 gene and MECKEL SYNDROME, TYPE 11 PMID 27449316 2016 TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.

PMID 23012439 2012 Mutations in TMEM231 cause Joubert syndrome in French Canadians.