CALR3 Chromosome 19
Calreticulin 3
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What This Gene Does
The protein encoded by this gene belongs to the calreticulin family, members of which are calcium-binding chaperones localized mainly in the endoplasmic reticulum. This protein is also localized to the endoplasmic reticulum lumen, however, its capacity for calcium-binding may be absent or much lower than other family members. This gene is specifically expressed in the testis, and may be required for sperm fertility. Mutation in this gene has been associated with familial hypertrophic cardiomyopathy. [provided by RefSeq, Dec 2011]
Associated Conditions (5)
Hypertrophic cardiomyopathy 19
Arrhythmogenic right ventricular cardiomyopathy
Hypertrophic cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy
Key Variants
RS140440387
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 19, Hypertrophic cardiomyopathy 19
Health Risk
RS142951029
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 19, Arrhythmogenic right ventricular cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS182376945
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 19, Hypertrophic cardiomyopathy 19
Health Risk
RS747656642
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 19, Hypertrophic cardiomyopathy 19
Health Risk
RS75099211
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 19, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Health Risk
RS756560192
Conflicting classifications of pathogenicity
Cardiomyopathy, Hypertrophic cardiomyopathy 19, Cardiomyopathy
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140440387 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 19, Hypertrophic cardiomyopathy 19 |
| RS142951029 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 19, Arrhythmogenic right ventricular cardiomyopathy, Hypertrophic cardiomyopathy |
| RS182376945 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 19, Hypertrophic cardiomyopathy 19 |
| RS747656642 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 19, Hypertrophic cardiomyopathy 19 |
| RS75099211 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 19, Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS756560192 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Hypertrophic cardiomyopathy 19, Cardiomyopathy |