GPD1L
This page contains an overview of the genetic variation in the GPD1L 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:
GPD1L gene and transcript details
Gene Name
glycerol-3-phosphate dehydrogenase 1-like
Gene Links
Ensembl: ENSG00000152642 -
Locus Reference Genomic: LRG_419
Genomic Location
Chromosome 3 : 32,148,204 - 32,207,402 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (1053 bases) | Protein (351 aa) |
|---|---|---|
 |
ENST00000282541 | ENSP00000282541 |
 |
LRG_419t1 | LRG_419p1 |
 |
NM_015141.3 | |
 |
Q8N335 |
Summary of GPD1L in Cardiomyopathies
GPD1L variants in ExAC
Details of the protein-altering GPD1L 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 | 119 | 0.00137 |
| Truncating | 7 | 0.00007 |
| Missense | 99 | 0.00120 |
| Inframe | 1 | 0.00001 |
| Splice Site | 12 | 0.00010 |