HSPB7
This page contains an overview of the genetic variation in the HSPB7 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:
HSPB7 gene and transcript details
Gene Name
heat shock 27kDa protein family, member 7 (cardiovascular)
Gene Links
Ensembl: ENSG00000173641 -
Locus Reference Genomic:
Genomic Location
Chromosome 1 : 16,342,075 - 16,344,458 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (510 bases) | Protein (170 aa) |
|---|---|---|
 |
ENST00000311890 | ENSP00000310111 |
 |
||
 |
NM_014424.4 | |
 |
Q9UBY9 |
Summary of HSPB7 in Cardiomyopathies
HSPB7 variants in ExAC
Details of the protein-altering HSPB7 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 | 83 | 0.00157 |
| Truncating | 5 | 0.00005 |
| Missense | 71 | 0.00142 |
| Inframe | 1 | 0.00001 |
| Splice Site | 6 | 0.00009 |