DTNA

This page contains an overview of the genetic variation in the DTNA 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:

DTNA gene and transcript details

Gene Name
dystrobrevin, alpha

Gene Links
Ensembl: ENSG00000134769 - Locus Reference Genomic:

Genomic Location
Chromosome 18 : 32,335,941 - 32,446,125 (forward strand)
View in: Ensembl - UCSC Genome Browser


Canonical Seqs Transcript (1701 bases)Protein (567 aa)
ENST00000348997 ENSP00000336682
NM_032978.6

Summary of DTNA in Cardiomyopathies

DCM - Dilated Cardiomyopathy - explore in detail
VarTypeDCM FreqExAC FreqCase Excess
All0.008260.004360.39%
Truncating0.000000.00010-0.01%
Non-Truncating0.008260.004260.40%
Based on an analysis of rare variants (MAF<0.0001) in DTNA detected in a cohort of 121 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.


DTNA variants in ExAC

Details of the protein-altering DTNA 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 Variants1890.00252
Truncating60.00005
Missense1560.00213
Inframe00.00000
Splice Site270.00034

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