TECRL Chromosome 4
Trans-2,3-enoyl-CoA reductase like
Upload your DNA to see your personal genotypes for variants in TECRL.
What This Gene Does
The protein encoded by this gene contains a ubiquitin-like domain in the N-terminal region, three transmembrane segments and a C-terminal 3-oxo-5-alpha steroid 4-dehydrogenase domain. The protein belongs to the steroid 5-alpha reductase family. Mutations in this gene result in ventricular tachycardia, catecholaminergic polymorphic, 3. [provided by RefSeq, Apr 2017]
Gene Info
Gene Group
Steroid 5-alpha reductase family
Locus Type
gene with protein product
Location
4q13.1
Ensembl
ENSG00000205678
Associated Conditions (3)
Cardiovascular phenotype
TECRL-related disorder
Catecholaminergic polymorphic ventricular tachycardia 3
Key Variants
RS143329328
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS143746083
Conflicting classifications of pathogenicity
Cardiovascular phenotype, TECRL-related disorder, Catecholaminergic polymorphic ventricular tachycardia 3
Health Risk
RS1461307621
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 3, Cardiovascular phenotype
Health Risk
RS146610448
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 3, Cardiovascular phenotype
Health Risk
RS148442292
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 3, Cardiovascular phenotype
Health Risk
RS189087821
Conflicting classifications of pathogenicity
Catecholaminergic polymorphic ventricular tachycardia 3, Cardiovascular phenotype, TECRL-related disorder
Health Risk
RS563042010
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS768575047
Conflicting classifications of pathogenicity
Cardiovascular phenotype, TECRL-related disorder, Cardiovascular phenotype
Health Risk
RS974725975
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 3, Cardiovascular phenotype
Health Risk
RS2109973501
Likely pathogenic
Catecholaminergic polymorphic ventricular tachycardia 3, Catecholaminergic polymorphic ventricular tachycardia 3
Health Risk
RS2475720206
Likely pathogenic
Catecholaminergic polymorphic ventricular tachycardia 3, Catecholaminergic polymorphic ventricular tachycardia 3
Health Risk
RS2476098889
Likely pathogenic
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
All Variants (28)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143329328 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS143746083 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, TECRL-related disorder, Catecholaminergic polymorphic ventricular tachycardia 3 |
| RS1461307621 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 3, Cardiovascular phenotype |
| RS146610448 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 3, Cardiovascular phenotype |
| RS148442292 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 3, Cardiovascular phenotype |
| RS189087821 | Health Risk | Conflicting classifications of pathogenicity | Catecholaminergic polymorphic ventricular tachycardia 3, Cardiovascular phenotype, TECRL-related disorder |
| RS563042010 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS768575047 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, TECRL-related disorder, Cardiovascular phenotype |
| RS974725975 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 3, Cardiovascular phenotype |
| RS2109973501 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 3, Catecholaminergic polymorphic ventricular tachycardia 3 |
| RS2475720206 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 3, Catecholaminergic polymorphic ventricular tachycardia 3 |
| RS2476098889 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS369606261 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS763631876 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS764174354 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS773204795 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 3, Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 3 |
| RS1057517699 | Health Risk | Pathogenic | Catecholaminergic polymorphic ventricular tachycardia 3, Catecholaminergic polymorphic ventricular tachycardia 3 |
| RS1171171393 | Health Risk | Pathogenic | Catecholaminergic polymorphic ventricular tachycardia 3, Catecholaminergic polymorphic ventricular tachycardia 3 |
| RS1402891925 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS200472348 | Health Risk | Pathogenic | Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 3, Cardiovascular phenotype |
| RS2475860796 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2476017155 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2476067663 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2476098813 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS377068257 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS767096918 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS958406908 | Health Risk | Pathogenic | Catecholaminergic polymorphic ventricular tachycardia 3, Catecholaminergic polymorphic ventricular tachycardia 3 |
| RS539578837 | Health Risk | Pathogenic/Likely pathogenic | Cardiovascular phenotype, TECRL-related disorder, Catecholaminergic polymorphic ventricular tachycardia 3 |