Variant: rs104893989 

    present in Gene: RUNX2
    present in Chromosome: 6
    Position on Chromosome: 45431963
    Alleles of this Variant: T/C;G

rs104893989 in RUNX2 gene and Cleidocranial Dysplasia PMID 19744171 2010 RUNX2 mutations in cleidocranial dysplasia patients.

PMID 16270353 2006 Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype.

PMID 20082269 2010 A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia.

PMID 10689183 2000 PEBP2alphaA/CBFA1 mutations in Japanese cleidocranial dysplasia patients.

PMID 28703881 2018 A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia.

PMID 10545612 1999 CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia.

PMID 12081718 2002 New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia.

PMID 11857736 2002 Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.

PMID 28738062 2017 Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia.

PMID 12196916 2002 Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations.

PMID 20648631 2010 Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.

PMID 10980549 2000 A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia.

PMID 24984680 2014 A case of cleidocranial dysplasia with peculiar dental features: pathogenetic role of the RUNX2 mutation and long term follow-up.

PMID 28505335 2017 Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia.

PMID 10521292 1999 Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.

PMID 9182765 1997 Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia.

PMID 9207800 1997 Here, we describe two de novo missense mutations, Met175Arg and Ser191Asn, in the OSF2/CBFA1 gene in two patients with CCD.

PMID 12424590 2002 Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.