TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Disease: Shprintzen syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315522
rs74315522
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0220704
Disease:
Shprintzen syndrome 		0.800 GeneticVariation UNIPROT Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. 27467454 2016
dbSNP: rs74315522
rs74315522
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0220704
Disease:
Shprintzen syndrome 		0.800 GeneticVariation UNIPROT Practical guidelines for managing adults with 22q11.2 deletion syndrome. 25569435 2015
dbSNP: rs74315522
rs74315522
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0220704
Disease:
Shprintzen syndrome 		0.800 GeneticVariation UNIPROT We report a novel heterozygous missense mutation, H194Q, in a familial case of Shprintzen syndrome and show that this and the two previously reported missense mutations result in gain of function, possibly through stabilization of the protein dimer DNA complex. 17273972 2007
dbSNP: rs74315522
rs74315522
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0220704
Disease:
Shprintzen syndrome 		0.800 GeneticVariation UNIPROT Role of TBX1 in human del22q11.2 syndrome. 14585638 2003
dbSNP: rs74315522
rs74315522
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0220704
Disease:
Shprintzen syndrome 		G 0.800 CausalMutation CLINVAR