TNNI3K Chromosome 1
TNNI3 interacting kinase
Upload your DNA to see your personal genotypes for variants in TNNI3K.
What This Gene Does
This gene encodes a protein that belongs to the MAP kinase kinase kinase (MAPKKK) family of protein kinases. The protein contains ankyrin repeat, protein kinase and serine-rich domains and is thought to play a role in cardiac physiology. [provided by RefSeq, Sep 2012]
Gene Info
Gene Group
"Ankyrin repeat domain containing|Mixed lineage kinase family"
Locus Type
gene with protein product
Location
1p31.1
Ensembl
ENSG00000116783
Associated Conditions (6)
Inborn genetic diseases
Atrial conduction disease
TNNI3K-related disorder
Lymphoma
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Key Variants
RS138357965
Conflicting classifications of pathogenicity
Inborn genetic diseases, Atrial conduction disease, Inborn genetic diseases
Health Risk
RS139015168
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140963906
Conflicting classifications of pathogenicity
TNNI3K-related disorder, TNNI3K-related disorder
Health Risk
RS145260115
Conflicting classifications of pathogenicity
Atrial conduction disease, TNNI3K-related disorder, Lymphoma
Health Risk
RS145498815
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147391967
Conflicting classifications of pathogenicity
TNNI3K-related disorder, Inborn genetic diseases, TNNI3K-related disorder
Health Risk
RS149189267
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS199714304
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200491742
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201010209
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS201061482
Conflicting classifications of pathogenicity
Atrial conduction disease, Atrial conduction disease
Health Risk
RS201340993
Conflicting classifications of pathogenicity
Inborn genetic diseases, Atrial conduction disease, Inborn genetic diseases
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138357965 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Atrial conduction disease, Inborn genetic diseases |
| RS139015168 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS140963906 | Health Risk | Conflicting classifications of pathogenicity | TNNI3K-related disorder, TNNI3K-related disorder |
| RS145260115 | Health Risk | Conflicting classifications of pathogenicity | Atrial conduction disease, TNNI3K-related disorder, Lymphoma |
| RS145498815 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS147391967 | Health Risk | Conflicting classifications of pathogenicity | TNNI3K-related disorder, Inborn genetic diseases, TNNI3K-related disorder |
| RS149189267 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS199714304 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200491742 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201010209 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS201061482 | Health Risk | Conflicting classifications of pathogenicity | Atrial conduction disease, Atrial conduction disease |
| RS201340993 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Atrial conduction disease, Inborn genetic diseases |
| RS201614312 | Health Risk | Conflicting classifications of pathogenicity | TNNI3K-related disorder, TNNI3K-related disorder |
| RS202003543 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS367667018 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Atrial conduction disease, Inborn genetic diseases |
| RS45532739 | Health Risk | Conflicting classifications of pathogenicity | TNNI3K-related disorder, Atrial conduction disease, TNNI3K-related disorder |
| RS548261851 | Health Risk | Conflicting classifications of pathogenicity | Atrial conduction disease, Atrial conduction disease |
| RS746684996 | Health Risk | Conflicting classifications of pathogenicity | Atrial conduction disease, Atrial conduction disease |
| RS777466193 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1294489336 | Health Risk | Likely pathogenic | Arrhythmogenic right ventricular dysplasia 2, Arrhythmogenic right ventricular dysplasia 2 |
| RS1662479663 | Health Risk | Likely pathogenic | Atrial conduction disease, Atrial conduction disease |
| RS606231469 | Health Risk | Likely pathogenic | Atrial conduction disease, Atrial conduction disease |
| RS567089878 | Health Risk | Pathogenic | TNNI3K-related disorder, TNNI3K-related disorder |
| RS202238194 | Health Risk | Pathogenic/Likely pathogenic | Atrial conduction disease, Cardiovascular phenotype, Atrial conduction disease |