Variant: rs104894937 

    present in Gene: TAZ;DNASE1L1
    present in Chromosome: X
    Position on Chromosome: 154413549
    Alleles of this Variant: T/C

rs104894937 in TAZ;DNASE1L1 gene and 3-Methylglutaconic aciduria type 2 PMID 11238270 2001 Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.

PMID 12032589 2002 Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.

PMID 9382096 1997 The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

PMID 9382097 1997 Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome.