PPP1R17
This page contains an overview of the genetic variation in the PPP1R17 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:
PPP1R17 gene and transcript details
Gene Name
protein phosphatase 1, regulatory subunit 17
Gene Links
Ensembl: ENSG00000106341 -
Locus Reference Genomic:
Genomic Location
Chromosome 7 : 31,732,056 - 31,746,897 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (465 bases) | Protein (155 aa) |
|---|---|---|
 |
ENST00000342032 | ENSP00000340125 |
 |
||
 |
NM_006658.4 | |
 |
O96001 |
Summary of PPP1R17 in Cardiomyopathies
PPP1R17 variants in ExAC
Details of the protein-altering PPP1R17 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 | 71 | 0.00128 |
| Truncating | 8 | 0.00017 |
| Missense | 57 | 0.00102 |
| Inframe | 0 | 0.00000 |
| Splice Site | 6 | 0.00009 |