Variant: rs1553845569 

    present in Gene: CC2D2A
    present in Chromosome: 4
    Position on Chromosome: 15599527
    Alleles of this Variant: A/G

rs1553845569 in CC2D2A gene and Muscle hypotonia PMID 26729329 2016 Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.

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

PMID 19058225 2009 MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

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

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

PMID 27959436 2017 Novel CC2D2A compound heterozygous mutations cause Joubert syndrome.