TCAP Chromosome 17
Titin-cap
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What This Gene Does
Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. [provided by RefSeq, Jul 2008]
Associated Conditions (13)
Autosomal recessive limb-girdle muscular dystrophy type 2G
Hypertrophic cardiomyopathy 25
Cardiovascular phenotype
Primary familial hypertrophic cardiomyopathy
Cardiomyopathy
Hypertrophic cardiomyopathy 1
TCAP-related disorder
Brugada syndrome
Primary dilated cardiomyopathy
Hypertrophic cardiomyopathy
Long QT syndrome
Abnormality of the musculature
Elevated circulating creatine kinase concentration
Key Variants
RS1355624192
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, Cardiovascular phenotype
Health Risk
RS143233087
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiomyopathy, Hypertrophic cardiomyopathy 25
Health Risk
RS146502276
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hypertrophic cardiomyopathy 25, Autosomal recessive limb-girdle muscular dystrophy type 2G
Health Risk
RS146906267
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype
Health Risk
RS149585781
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 25, Autosomal recessive limb-girdle muscular dystrophy type 2G, Primary familial hypertrophic cardiomyopathy
Health Risk
RS1567865110
Conflicting classifications of pathogenicity
Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy
Health Risk
RS372538567
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype
Health Risk
RS375310569
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2G
Health Risk
RS397516861
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Cardiomyopathy
Health Risk
RS397516862
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 1, Cardiovascular phenotype, Hypertrophic cardiomyopathy 25
Health Risk
RS397516863
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS45495192
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy
Health Risk
All Variants (47)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1355624192 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, Cardiovascular phenotype |
| RS143233087 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiomyopathy, Hypertrophic cardiomyopathy 25 |
| RS146502276 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Hypertrophic cardiomyopathy 25, Autosomal recessive limb-girdle muscular dystrophy type 2G |
| RS146906267 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS149585781 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 25, Autosomal recessive limb-girdle muscular dystrophy type 2G, Primary familial hypertrophic cardiomyopathy |
| RS1567865110 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy |
| RS372538567 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS375310569 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2G |
| RS397516861 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Cardiomyopathy |
| RS397516862 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 1, Cardiovascular phenotype, Hypertrophic cardiomyopathy 25 |
| RS397516863 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS45495192 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy |
| RS45506294 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, Autosomal recessive limb-girdle muscular dystrophy type 2G |
| RS45540732 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 25, Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25 |
| RS45592941 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 25, Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25 |
| RS45614332 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS749565002 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy |
| RS754744780 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25, Cardiovascular phenotype |
| RS768942598 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS773913117 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy |
| RS777518512 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy |
| RS794729175 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25, Cardiovascular phenotype |
| RS794729178 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy |
| RS113187448 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2G, Autosomal recessive limb-girdle muscular dystrophy type 2G |
| RS1567864804 | Health Risk | Likely pathogenic | Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS2543739837 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy 25, Hypertrophic cardiomyopathy 25 |
| RS2543740092 | Health Risk | Likely pathogenic | — |
| RS369447207 | Health Risk | Likely pathogenic | Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy |
| RS757082868 | Health Risk | Likely pathogenic | Abnormality of the musculature, Autosomal recessive limb-girdle muscular dystrophy type 2G, Abnormality of the musculature |
| RS786205076 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2G, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25 |
| RS863224933 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2G, Autosomal recessive limb-girdle muscular dystrophy type 2G |
| RS1219700070 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1435437660 | Health Risk | Pathogenic | Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy |
| RS1555606959 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2G, Abnormality of the musculature, Hypertrophic cardiomyopathy 25 |
| RS2057249899 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25 |
| RS2057250066 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25 |
| RS2543737772 | Health Risk | Pathogenic | Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy |
| RS2543737997 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25 |
| RS758142728 | Health Risk | Pathogenic | Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy |
| RS773317399 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 25, Hypertrophic cardiomyopathy 25 |
| RS778568339 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2G |
| RS779699520 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25 |
| RS104894655 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, Primary dilated cardiomyopathy |
| RS141019458 | Health Risk | Pathogenic/Likely pathogenic | Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS1555606976 | Health Risk | Pathogenic/Likely pathogenic | Elevated circulating creatine kinase concentration, Abnormality of the musculature, Autosomal recessive limb-girdle muscular dystrophy type 2G |
| RS778851652 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy |
| RS886044421 | Health Risk | Pathogenic/Likely pathogenic | Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy |