TAZ

This page contains an overview of the genetic variation in the TAZ gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:

TAZ gene and transcript details

Gene Name
tafazzin

Gene Links
Ensembl: ENSG00000102125 - Locus Reference Genomic: LRG_131

Genomic Location
Chromosome X : 153,640,181 - 153,649,343 (forward strand)
View in: Ensembl - UCSC Genome Browser


Canonical Seqs Transcript (876 bases)Protein (292 aa)
ENST00000299328 ENSP00000299328
LRG_131t1LRG_131p1
NM_000116.3
Q16635

Summary of TAZ in Cardiomyopathies

DCM - Dilated Cardiomyopathy - explore in detail
VarTypeDCM FreqExAC FreqCase Excess
All0.004050.000940.31%
Truncating0.001350.000010.13%
Non-Truncating0.002700.000910.18%
Based on an analysis of rare variants (MAF<0.0001) in TAZ detected in a cohort of 740 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.


TAZ variants in ExAC

Details of the protein-altering TAZ variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.

Total VariantsCombined frequency of rare variants
All Variants490.00084
Truncating10.00001
Missense330.00063
Inframe00.00000
Splice Site150.00020

Rare variants are defined as having a mean allelic frequency of less than 0.0001.