TRDN-AS1
Basic information
Region (hg38): 6:123389421-123511509
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Catecholaminergic polymorphic ventricular tachycardia 1 (132 variants)
- Cardiovascular phenotype (71 variants)
- not provided (35 variants)
- Catecholaminergic polymorphic ventricular tachycardia 5 (12 variants)
- not specified (11 variants)
- Catecholaminergic polymorphic ventricular tachycardia (7 variants)
- Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1 (4 variants)
- Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5 (2 variants)
- Inborn genetic diseases (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRDN-AS1 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 0 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 98 | 71 | 22 | 194 | ||
Total | 2 | 1 | 98 | 71 | 22 |
Highest pathogenic variant AF is 0.0000594
Variants in TRDN-AS1
This is a list of pathogenic ClinVar variants found in the TRDN-AS1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
6-123393511-G-T | Benign (Jun 26, 2018) | |||
6-123393512-C-T | Benign (Jun 23, 2018) | |||
6-123393610-GT-G | Catecholaminergic polymorphic ventricular tachycardia 1 | Benign (Jun 06, 2023) | ||
6-123393619-C-T | not specified • Cardiovascular phenotype • Catecholaminergic polymorphic ventricular tachycardia 1 | Benign (Feb 01, 2024) | ||
6-123393622-AC-A | Catecholaminergic polymorphic ventricular tachycardia 1 | Uncertain significance (Feb 22, 2021) | ||
6-123393624-C-A | Catecholaminergic polymorphic ventricular tachycardia 1 | Uncertain significance (Sep 17, 2021) | ||
6-123393624-C-T | Catecholaminergic polymorphic ventricular tachycardia 5 • Cardiovascular phenotype • Catecholaminergic polymorphic ventricular tachycardia 1 | Uncertain significance (Mar 25, 2024) | ||
6-123393628-T-C | Catecholaminergic polymorphic ventricular tachycardia 1 | Likely benign (Dec 27, 2023) | ||
6-123393630-C-A | Cardiovascular phenotype | Uncertain significance (Apr 03, 2022) | ||
6-123393630-CT-AG | Cardiovascular phenotype • Catecholaminergic polymorphic ventricular tachycardia 1 | Uncertain significance (Nov 03, 2022) | ||
6-123393631-T-G | Cardiovascular phenotype • Catecholaminergic polymorphic ventricular tachycardia 1 | Likely benign (Sep 28, 2022) | ||
6-123393633-C-T | not specified • Cardiovascular phenotype • Catecholaminergic polymorphic ventricular tachycardia 5 • Catecholaminergic polymorphic ventricular tachycardia 1 | Benign/Likely benign (Feb 25, 2024) | ||
6-123393642-C-T | Catecholaminergic polymorphic ventricular tachycardia 1 • Cardiovascular phenotype | Conflicting classifications of pathogenicity (Nov 20, 2022) | ||
6-123393643-A-T | Cardiovascular phenotype | Likely benign (Dec 10, 2023) | ||
6-123393645-T-C | Catecholaminergic polymorphic ventricular tachycardia 5 | Uncertain significance (Mar 30, 2021) | ||
6-123393646-C-G | Catecholaminergic polymorphic ventricular tachycardia 1 | Likely benign (Jan 23, 2022) | ||
6-123393665-GC-G | Catecholaminergic polymorphic ventricular tachycardia | Likely pathogenic (Jun 30, 2022) | ||
6-123393666-C-A | Cardiovascular phenotype • Catecholaminergic polymorphic ventricular tachycardia 1 | Uncertain significance (Jun 04, 2024) | ||
6-123393669-T-C | Catecholaminergic polymorphic ventricular tachycardia 1 | Uncertain significance (Jul 26, 2022) | ||
6-123393671-C-T | Catecholaminergic polymorphic ventricular tachycardia 1 | Uncertain significance (May 25, 2022) | ||
6-123393673-C-A | Cardiovascular phenotype • Catecholaminergic polymorphic ventricular tachycardia 1 | Likely benign (Dec 21, 2023) | ||
6-123393673-C-T | Cardiovascular phenotype • Catecholaminergic polymorphic ventricular tachycardia 1 | Likely benign (Oct 04, 2023) | ||
6-123393674-G-A | Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5 • Cardiovascular phenotype • Catecholaminergic polymorphic ventricular tachycardia 1 | Uncertain significance (Sep 10, 2023) | ||
6-123393674-G-T | Cardiovascular phenotype • Catecholaminergic polymorphic ventricular tachycardia 1 | Uncertain significance (Jun 20, 2022) | ||
6-123393675-G-A | Cardiovascular phenotype | Likely benign (Nov 13, 2023) |
GnomAD
Source:
dbNSFP
Source: