Variant: rs387907218 

    present in Gene: TAZ
    present in Chromosome: X
    Position on Chromosome: 154420676
    Alleles of this Variant: G/A;C

rs387907218 in TAZ gene and 3-Methylglutaconic aciduria type 2 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 11238270 2001 Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.

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

rs387907218 in TAZ gene and Cardiomyopathy, Dilated PMID 11896212 2002 Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle.

PMID 4685904 1973 Two cases of endocardial fibroelastosis--possible x-linked determination.

PMID 12468278 2002 Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction.

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