Variant: rs1555896474 

    present in Gene: TBX1
    present in Chromosome: 22
    Position on Chromosome: 19765900
    Alleles of this Variant: A/G

rs1555896474 in TBX1 gene and Dysmorphic features PMID 27617111 2015 22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening.

PMID 11748311 2001 Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects.

PMID 1349199 1992 A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

PMID 23996541 2013 Understanding the role of Tbx1 as a candidate gene for 22q11.2 deletion syndrome.

PMID 26056486 2015 22q11 deletion syndrome: current perspective.

PMID 17273972 2007 Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.

PMID 26884814 2016 Copy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarray.

PMID 24998776 2014 Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion.

PMID 25569435 2015 Practical guidelines for managing adults with 22q11.2 deletion syndrome.

PMID 18636631 2008 Velo-cardio-facial syndrome: 30 Years of study.