ZBTB17
This page contains an overview of the genetic variation in the ZBTB17 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:
ZBTB17 gene and transcript details
Gene Name
zinc finger and BTB domain containing 17
Gene Links
Ensembl: ENSG00000116809 -
Locus Reference Genomic:
Genomic Location
Chromosome 1 : 16,268,464 - 16,274,990 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (2409 bases) | Protein (803 aa) |
|---|---|---|
 |
ENST00000375743 | ENSP00000364895 |
 |
||
 |
NM_003443.2 | |
 |
Q13105 |
Summary of ZBTB17 in Cardiomyopathies
ZBTB17 variants in ExAC
Details of the protein-altering ZBTB17 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 Variants | Combined frequency of rare variants | |
|---|---|---|
| All Variants | 205 | 0.00306 |
| Truncating | 2 | 0.00002 |
| Missense | 162 | 0.00237 |
| Inframe | 4 | 0.00004 |
| Splice Site | 37 | 0.00064 |