| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.710 | GeneticVariation | BEFREE | The truncated slow TNNT1 (TnT) fragment (p.Glu180Ter) was undetectable in ANM muscle, reflecting its rapid proteolysis and clearance from sarcoplasm. | 29931346 | 2018 |
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|
A | 0.710 | CausalMutation | CLINVAR | Functional Basis of Three New Recessive Mutations of Slow Skeletal Muscle Troponin T Found in Non-Amish TNNT1 Nemaline Myopathies. | 27429059 | 2016 |
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|
A | 0.710 | CausalMutation | CLINVAR | Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy. | 15665378 | 2005 |
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|
A | 0.710 | CausalMutation | CLINVAR | Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy. | 12732643 | 2003 |
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|
A | 0.710 | CausalMutation | CLINVAR | A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. | 10952871 | 2000 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order Amish. | 25430424 | 2015 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree. | 24689076 | 2014 |
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|
C | 0.700 | GeneticVariation | CLINVAR | A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. | 10952871 | 2000 |
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|
TG | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR |