GPR183
This page contains an overview of the genetic variation in the GPR183 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:
GPR183 gene and transcript details
Gene Name
G protein-coupled receptor 183
Gene Links
Ensembl: ENSG00000169508 -
Locus Reference Genomic:
Genomic Location
Chromosome 13 : 99,947,314 - 99,948,399 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (1083 bases) | Protein (361 aa) |
|---|---|---|
 |
ENST00000376414 | ENSP00000365596 |
 |
||
 |
NM_004951.4 | |
 |
P32249 |
Summary of GPR183 in Cardiomyopathies
GPR183 variants in ExAC
Details of the protein-altering GPR183 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 | 107 | 0.00172 |
| Truncating | 3 | 0.00003 |
| Missense | 101 | 0.00167 |
| Inframe | 0 | 0.00000 |
| Splice Site | 3 | 0.00003 |