present in Gene: TBX1
present in Chromosome: 22
Position on Chromosome: 19765921
Alleles of this Variant: G/A;T
rs41298838 in
TBX1 gene and
DiGeorge Syndrome
PMID 11195019 2001 Velofacial hypoplasia (Sedlackova syndrome): a variant of velocardiofacial (Shprintzen) syndrome and part of the phenotypical spectrum of del 22q11.2.
PMID 27467454 2016 Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.