CASQ1 Chromosome 1
Calsequestrin 1
Upload your DNA to see your personal genotypes for variants in CASQ1.
What This Gene Does
This gene encodes the skeletal muscle specific member of the calsequestrin protein family. Calsequestrin functions as a luminal sarcoplasmic reticulum calcium sensor in both cardiac and skeletal muscle cells. This protein, also known as calmitine, functions as a calcium regulator in the mitochondria of skeletal muscle. This protein is absent in patients with Duchenne and Becker types of muscular dystrophy. [provided by RefSeq, Jun 2013]
Gene Info
Gene Group
Protein disulfide isomerases
Locus Type
gene with protein product
Location
1q23.2
Ensembl
ENSG00000143318
Associated Conditions (4)
Inborn genetic diseases
Myopathy due to calsequestrin and SERCA1 protein overload
Familial cancer of breast
Myopathy with tubular aggregates
Key Variants
RS138101305
Conflicting classifications of pathogenicity
Inborn genetic diseases, Myopathy due to calsequestrin and SERCA1 protein overload, Inborn genetic diseases
Health Risk
RS145486953
Conflicting classifications of pathogenicity
Myopathy due to calsequestrin and SERCA1 protein overload, Familial cancer of breast, Myopathy due to calsequestrin and SERCA1 protein overload
Health Risk
RS146742224
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147541452
Conflicting classifications of pathogenicity
Myopathy due to calsequestrin and SERCA1 protein overload, Inborn genetic diseases, Myopathy due to calsequestrin and SERCA1 protein overload
Health Risk
RS150143470
Conflicting classifications of pathogenicity
Health Risk
RS1654108256
Conflicting classifications of pathogenicity
Myopathy with tubular aggregates, Myopathy with tubular aggregates
Health Risk
RS2101672500
Conflicting classifications of pathogenicity
Health Risk
RS34415446
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS749145120
Conflicting classifications of pathogenicity
Myopathy due to calsequestrin and SERCA1 protein overload, Myopathy due to calsequestrin and SERCA1 protein overload
Health Risk
RS775466623
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS79469730
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1422979746
Likely pathogenic
Myopathy due to calsequestrin and SERCA1 protein overload, Myopathy due to calsequestrin and SERCA1 protein overload
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138101305 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Myopathy due to calsequestrin and SERCA1 protein overload, Inborn genetic diseases |
| RS145486953 | Health Risk | Conflicting classifications of pathogenicity | Myopathy due to calsequestrin and SERCA1 protein overload, Familial cancer of breast, Myopathy due to calsequestrin and SERCA1 protein overload |
| RS146742224 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS147541452 | Health Risk | Conflicting classifications of pathogenicity | Myopathy due to calsequestrin and SERCA1 protein overload, Inborn genetic diseases, Myopathy due to calsequestrin and SERCA1 protein overload |
| RS150143470 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1654108256 | Health Risk | Conflicting classifications of pathogenicity | Myopathy with tubular aggregates, Myopathy with tubular aggregates |
| RS2101672500 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS34415446 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS749145120 | Health Risk | Conflicting classifications of pathogenicity | Myopathy due to calsequestrin and SERCA1 protein overload, Myopathy due to calsequestrin and SERCA1 protein overload |
| RS775466623 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS79469730 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1422979746 | Health Risk | Likely pathogenic | Myopathy due to calsequestrin and SERCA1 protein overload, Myopathy due to calsequestrin and SERCA1 protein overload |
| RS371278891 | Health Risk | Likely pathogenic | — |
| RS773153762 | Health Risk | Likely pathogenic | — |
| RS2525040830 | Health Risk | Pathogenic | Myopathy with tubular aggregates, Myopathy with tubular aggregates |
| RS730882052 | Health Risk | Pathogenic | Myopathy due to calsequestrin and SERCA1 protein overload, Myopathy due to calsequestrin and SERCA1 protein overload |