Variant: rs118204052 

    present in Gene: CC2D2A
    present in Chromosome: 4
    Position on Chromosome: 15599614
    Alleles of this Variant: C/T

rs118204052 in CC2D2A gene and COACH syndrome PMID 19574260 2010 Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

rs118204052 in CC2D2A gene and JOUBERT SYNDROME 9 (disorder) PMID 18387594 2008 CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.

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

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 22425360 2012 Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

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

PMID 22246503 2012 CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.

PMID 22241855 2012 Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.

PMID 18950740 2008 CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

PMID 19777577 2009 CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.