CAPN3
HGNC:1480 · SaudiVarKB evidence summary derived from retained literature mentions.
6Gene mentions
6Publications
1Linked variants
4Associated phenotypes
Associated phenotypes
Co-mentioned in CAPN3 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| congenital myopathy | — | 2 | 2 |
| coronary artery disease | — | 1 | 1 |
| Duchenne muscular dystrophy | — | 1 | 1 |
| Pompe disease | — | 1 | 1 |
Linked variants
Variants normalized to CAPN3| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| 3A>G | — | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | — | 1 |
| Saudi Arabia | — | — | 1 |
| Saudi Arabia | — | 112 | 1 |
| Not specified | — | 11 | 1 |
| Not specified | — | 8,263 | 1 |
Supporting publications
6 records- 2022A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees.American journal of medical genetics. Part A1 mentions
- 2021Clinical and genetic features of Calpainopathies in Saudi Arabia - a descriptive cross-sectional study.European review for medical and pharmacological sciences1 mentions
- 2017The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.Journal of human genetics1 mentions
- 2017Novel genetic loci associated with long-term deterioration in blood lipid concentrations and coronary artery disease in European adults.International journal of epidemiology1 mentions
- 2016A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.Human genomics1 mentions
- 2016Novel Homozygous Missense Mutation in CAPN3 Gene Detected in a Saudi Arabian Family With Limb-Girdle Muscular Dystrophy Type 2A.Journal of clinical neuromuscular disease1 mentions