CCT6B
This page contains an overview of the genetic variation in the CCT6B 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:
CCT6B gene and transcript details
Gene Name
chaperonin containing TCP1, subunit 6B (zeta 2)
Gene Links
Ensembl: ENSG00000132141 -
Locus Reference Genomic:
Genomic Location
Chromosome 17 : 33,255,067 - 33,288,412 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (1590 bases) | Protein (530 aa) |
|---|---|---|
 |
ENST00000314144 | ENSP00000327191 |
 |
||
 |
NM_006584.3 | |
 |
Q92526 |
Summary of CCT6B in Cardiomyopathies
CCT6B variants in ExAC
Details of the protein-altering CCT6B 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 | 240 | 0.00377 |
| Truncating | 24 | 0.00038 |
| Missense | 185 | 0.00285 |
| Inframe | 3 | 0.00007 |
| Splice Site | 28 | 0.00046 |