PRDM16
This page contains an overview of the genetic variation in the PRDM16 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:
PRDM16 gene and transcript details
Gene Name
PR domain containing 16
Gene Links
Ensembl: ENSG00000142611 -
Locus Reference Genomic:
Genomic Location
Chromosome 1 : 2,985,824 - 3,350,375 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (3828 bases) | Protein (1276 aa) |
|---|---|---|
 |
ENST00000270722 | ENSP00000270722 |
 |
||
 |
NM_022114.3 | |
 |
Q9HAZ2 |
Summary of PRDM16 in Cardiomyopathies
PRDM16 variants in ExAC
Details of the protein-altering PRDM16 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 | 575 | 0.01004 |
| Truncating | 3 | 0.00003 |
| Missense | 516 | 0.00901 |
| Inframe | 9 | 0.00015 |
| Splice Site | 47 | 0.00087 |