TRDN |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- TRDN (HGNC:12261) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- triadin
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- TRISK
- %HI
- 49.08(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.36(Read more about gnomAD LOEUF score)
- Cytoband
- 6q22.31
- Genomic Coordinates
-
GRCh37/hg19: chr6:123537484-123958095 NCBI Ensembl UCSC GRCh38/hg38: chr6:123216339-123636950 NCBI Ensembl UCSC - MANE Select Transcript
- NM_006073.4 ENST00000334268.9 (Read more about MANE Select)
- Function
- Contributes to the regulation of lumenal Ca2+ release via the sarcoplasmic reticulum calcium release channels RYR1 and RYR2, a key step in triggering skeletal and heart muscle contraction. Required for normal organization of the triad junction, where T-tubules and the sarcoplasmic reticulum terminal cisternae are in close contact (By similarity). Required for normal skeletal muscle strength. Plays a role in excitation-contraction coupling in the heart and in regulating the rate of heart beats. {... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-23857
ClinGen Curation ID:
CCID:008038
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- catecholaminergic polymorphic ventricular tachycardia 5 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000006.11)
(NC_000006.12)