Variant: rs104894378 

    present in Gene: TBX5
    present in Chromosome: 12
    Position on Chromosome: 114385521
    Alleles of this Variant: C/G;T

rs104894378 in TBX5 gene and AORTIC VALVE DISEASE 2 PMID 12789647 2003 Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.

PMID 11555635 2001 Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome.

PMID 8988165 1997 Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome.

PMID 20519243 2010 Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.

PMID 12499378 2003 Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome.

PMID 10077612 1999 Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.

rs104894378 in TBX5 gene and Holt-Oram syndrome PMID 19648116 2009 Functional role of transcriptional factor TBX5 in pre-mRNA splicing and Holt-Oram syndrome via association with SC35.

PMID 10842287 2000 Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome.

PMID 10077612 1999 Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.

PMID 11431700 2001 A G80R mutation of Tbx5, which causes substantial cardiac defects with minor skeletal abnormalities in HOS, did not activate Nppa or show synergistic activation, whereas R237Q, which causes upper-limb malformations without cardiac abnormalities, activated the Nppa promoter to a similar extent to that of wildtype Tbx5.

PMID 20450920 2010 Structural basis of TBX5-DNA recognition: the T-box domain in its DNA-bound and -unbound form.

PMID 15735645 2005 Mutation in myosin heavy chain 6 causes atrial septal defect.

PMID 8988165 1997 Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome.

PMID 20519243 2010 Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.

PMID 12818525 2004 Holt-Oram syndrome: a new mutation in the TBX5 gene in two unrelated families.

PMID 11555635 2001 Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome.

PMID 12499378 2003 Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome.

PMID 8988164 1997 Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family.

PMID 21897873 2011 Synergistic activation of cardiac genes by myocardin and Tbx5.