SGCD
This page contains an overview of the genetic variation in the SGCD 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:
SGCD gene and transcript details
Gene Name
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
Gene Links
Ensembl: ENSG00000170624 -
Locus Reference Genomic: LRG_205
Genomic Location
Chromosome 5 : 155,756,587 - 156,186,401 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (870 bases) | Protein (290 aa) |
|---|---|---|
 |
ENST00000337851 | ENSP00000338343 |
 |
LRG_205t1 | LRG_205p1 |
 |
NM_000337.5 | |
 |
Summary of SGCD in Cardiomyopathies
DCM - Dilated Cardiomyopathy - explore in detail| VarType | DCM Freq | ExAC Freq | Case Excess |
|---|---|---|---|
| All | 0.00678 | 0.00338 | 0.34% |
| Truncating | 0.00169 | 0.00022 | 0.15% |
| Non-Truncating | 0.00508 | 0.00314 | 0.19% |
SGCD variants in ExAC
Details of the protein-altering SGCD 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 | 0.00192 |
| Truncating | 8 | 0.00011 |
| Missense | 84 | 0.00156 |
| Inframe | 1 | 0.00001 |
| Splice Site | 14 | 0.00023 |