TRDN

Chr 6

triadin

Also known as: CARDAR, CPVT5, TDN, TRISK

NCBI Gene: 10345ENSG00000186439UniProt: Q13061

This gene encodes an integral membrane protein found in skeletal and cardiac muscle. The encoded protein plays a role in skeletal muscle excitation-contraction coupling as part of the calcium release complex and is required for normal skeletal muscle strength. This protein indirectly links triads and microtubules in skeletal muscle. Mutations in this gene are associated with cardiac arrythmia syndrome and some variants in this gene may be associated with sudden cardiac death. [provided by RefSeq, May 2022]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCardiac arrhythmia syndrome, with or without skeletal muscle weakness

Clinical highlights

Gene-disease validity (ClinGen)
catecholaminergic polymorphic ventricular tachycardia · ARDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
15
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.02
LOEUF
LOF
Mechanism· G2P
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GeneReview available — TRDN
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.02LOEUF
pLI 0.000
Z-score 1.46
OE 0.78 (0.60–1.02)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.08Z-score
OE missense 1.01 (0.92–1.11)
294 obs / 290.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.78 (0.60–1.02)
0≤0.351.4
Missense OE?1.01 (0.92–1.11)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 39 / 50.1Missense obs/exp: 294 / 290.3Syn Z: 0.08

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TRDN · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients