CTNNA3 Chromosome 10
Catenin alpha 3
Upload your DNA to see your personal genotypes for variants in CTNNA3.
What This Gene Does
This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia, familial 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Gene Info
Gene Group
"Alpha catenins|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
10q21.3
Ensembl
ENSG00000183230
Associated Conditions (9)
Arrhythmogenic right ventricular dysplasia 13
CTNNA3-related disorder
Primary familial hypertrophic cardiomyopathy
Congenital heart disease
Uterine corpus endometrial carcinoma
Primary dilated cardiomyopathy
Long QT syndrome
Malignant tumor of urinary bladder
Arrhythmogenic right ventricular cardiomyopathy
Key Variants
RS111425421
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 13, CTNNA3-related disorder, Arrhythmogenic right ventricular dysplasia 13
Health Risk
RS1292553472
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13
Health Risk
RS1364739747
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13
Health Risk
RS139105272
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13
Health Risk
RS145043626
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13
Health Risk
RS147116577
Conflicting classifications of pathogenicity
Primary familial hypertrophic cardiomyopathy, Arrhythmogenic right ventricular dysplasia 13, Primary familial hypertrophic cardiomyopathy
Health Risk
RS187752783
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 13, CTNNA3-related disorder, Arrhythmogenic right ventricular dysplasia 13
Health Risk
RS190073606
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13
Health Risk
RS199852825
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13
Health Risk
RS201810511
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13
Health Risk
RS370269225
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 13, Congenital heart disease, Arrhythmogenic right ventricular dysplasia 13
Health Risk
RS372808360
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 13, Uterine corpus endometrial carcinoma, Arrhythmogenic right ventricular dysplasia 13
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111425421 | Health Risk | Conflicting classifications of pathogenicity | Arrhythmogenic right ventricular dysplasia 13, CTNNA3-related disorder, Arrhythmogenic right ventricular dysplasia 13 |
| RS1292553472 | Health Risk | Conflicting classifications of pathogenicity | Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13 |
| RS1364739747 | Health Risk | Conflicting classifications of pathogenicity | Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13 |
| RS139105272 | Health Risk | Conflicting classifications of pathogenicity | Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13 |
| RS145043626 | Health Risk | Conflicting classifications of pathogenicity | Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13 |
| RS147116577 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, Arrhythmogenic right ventricular dysplasia 13, Primary familial hypertrophic cardiomyopathy |
| RS187752783 | Health Risk | Conflicting classifications of pathogenicity | Arrhythmogenic right ventricular dysplasia 13, CTNNA3-related disorder, Arrhythmogenic right ventricular dysplasia 13 |
| RS190073606 | Health Risk | Conflicting classifications of pathogenicity | Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13 |
| RS199852825 | Health Risk | Conflicting classifications of pathogenicity | Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13 |
| RS201810511 | Health Risk | Conflicting classifications of pathogenicity | Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13 |
| RS370269225 | Health Risk | Conflicting classifications of pathogenicity | Arrhythmogenic right ventricular dysplasia 13, Congenital heart disease, Arrhythmogenic right ventricular dysplasia 13 |
| RS372808360 | Health Risk | Conflicting classifications of pathogenicity | Arrhythmogenic right ventricular dysplasia 13, Uterine corpus endometrial carcinoma, Arrhythmogenic right ventricular dysplasia 13 |
| RS377404952 | Health Risk | Conflicting classifications of pathogenicity | Arrhythmogenic right ventricular dysplasia 13, CTNNA3-related disorder, Arrhythmogenic right ventricular dysplasia 13 |
| RS41313840 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Arrhythmogenic right ventricular dysplasia 13, CTNNA3-related disorder |
| RS530727340 | Health Risk | Conflicting classifications of pathogenicity | Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13 |
| RS540006729 | Health Risk | Conflicting classifications of pathogenicity | Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13 |
| RS545174357 | Health Risk | Conflicting classifications of pathogenicity | Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13 |
| RS551887944 | Health Risk | Conflicting classifications of pathogenicity | Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13 |
| RS74141466 | Health Risk | Conflicting classifications of pathogenicity | Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13 |
| RS767234618 | Health Risk | Conflicting classifications of pathogenicity | Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13 |
| RS77165728 | Health Risk | Conflicting classifications of pathogenicity | Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13 |
| RS774499271 | Health Risk | Conflicting classifications of pathogenicity | Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13 |
| RS2492219063 | Health Risk | Likely pathogenic | Long QT syndrome, Long QT syndrome |
| RS2493164118 | Health Risk | Likely pathogenic | Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13 |
| RS759618368 | Health Risk | Likely pathogenic | Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS587777134 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13 |
| RS587777135 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 13 |