Variant: rs1554201018 

    present in Gene: GJA1
    present in Chromosome: 6
    Position on Chromosome: 121447259
    Alleles of this Variant: G/A

rs1554201018 in GJA1 gene and Oculodentodigital Dysplasia, Autosomal Recessive PMID 27226478 2016 Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia.

PMID 25388818 2014 Palmoplantar keratosis in oculodentodigital dysplasia with a GJA1 point mutation out of the C-terminal region of connexin 43.

PMID 18003637 2008 The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans.

PMID 17901047 2007 Identification of the calmodulin binding domain of connexin 43.

PMID 19338053 2009 GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.

PMID 18946008 2008 Novel mutations in GJA1 cause oculodentodigital syndrome.