TNNT1 Chromosome 19
Troponin T1, slow skeletal type
Upload your DNA to see your personal genotypes for variants in TNNT1.
What This Gene Does
This gene encodes a protein that is a subunit of troponin, which is a regulatory complex located on the thin filament of the sarcomere. This complex regulates striated muscle contraction in response to fluctuations in intracellular calcium concentration. This complex is composed of three subunits: troponin C, which binds calcium, troponin T, which binds tropomyosin, and troponin I, which is an inhibitory subunit. This protein is the slow skeletal troponin T subunit. Mutations in this gene cause nemaline myopathy type 5, also known as Amish nemaline myopathy, a neuromuscular disorder characterized by muscle weakness and rod-shaped, or nemaline, inclusions in skeletal muscle fibers which affects infants, resulting in death due to respiratory insufficiency, usually in the second year. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Troponin complex subunits
Locus Type
gene with protein product
Location
19q13.42
Ensembl
ENSG00000105048
Associated Conditions (9)
Nemaline myopathy 5
Inborn genetic diseases
TNNT1-related disorder
Ovarian serous cystadenocarcinoma
Nemaline myopathy 5C
autosomal dominant
Nemaline myopathy 5B
autosomal recessive
childhood-onset
Key Variants
RS115663668
Conflicting classifications of pathogenicity
Nemaline myopathy 5, Nemaline myopathy 5
Health Risk
RS138664823
Conflicting classifications of pathogenicity
Nemaline myopathy 5, Nemaline myopathy 5
Health Risk
RS1461051435
Conflicting classifications of pathogenicity
Nemaline myopathy 5, Nemaline myopathy 5
Health Risk
RS1555859876
Conflicting classifications of pathogenicity
Nemaline myopathy 5, Inborn genetic diseases, Nemaline myopathy 5
Health Risk
RS192248377
Conflicting classifications of pathogenicity
Nemaline myopathy 5, Nemaline myopathy 5
Health Risk
RS199652942
Conflicting classifications of pathogenicity
Nemaline myopathy 5, Inborn genetic diseases, TNNT1-related disorder
Health Risk
RS201143291
Conflicting classifications of pathogenicity
Nemaline myopathy 5, Nemaline myopathy 5
Health Risk
RS201722303
Conflicting classifications of pathogenicity
Nemaline myopathy 5, Inborn genetic diseases, Nemaline myopathy 5
Health Risk
RS2085462282
Conflicting classifications of pathogenicity
Nemaline myopathy 5, Nemaline myopathy 5
Health Risk
RS34313388
Conflicting classifications of pathogenicity
Nemaline myopathy 5, Nemaline myopathy 5
Health Risk
RS375682055
Conflicting classifications of pathogenicity
Nemaline myopathy 5, Ovarian serous cystadenocarcinoma, Nemaline myopathy 5
Health Risk
RS375999352
Conflicting classifications of pathogenicity
Nemaline myopathy 5, Nemaline myopathy 5
Health Risk
All Variants (46)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115663668 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 5, Nemaline myopathy 5 |
| RS138664823 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 5, Nemaline myopathy 5 |
| RS1461051435 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 5, Nemaline myopathy 5 |
| RS1555859876 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 5, Inborn genetic diseases, Nemaline myopathy 5 |
| RS192248377 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 5, Nemaline myopathy 5 |
| RS199652942 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 5, Inborn genetic diseases, TNNT1-related disorder |
| RS201143291 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 5, Nemaline myopathy 5 |
| RS201722303 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 5, Inborn genetic diseases, Nemaline myopathy 5 |
| RS2085462282 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 5, Nemaline myopathy 5 |
| RS34313388 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 5, Nemaline myopathy 5 |
| RS375682055 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 5, Ovarian serous cystadenocarcinoma, Nemaline myopathy 5 |
| RS375999352 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 5, Nemaline myopathy 5 |
| RS376456377 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 5, Nemaline myopathy 5, Nemaline myopathy 5 |
| RS759885491 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 5, Nemaline myopathy 5 |
| RS944152647 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 5, Nemaline myopathy 5 |
| RS1156410888 | Health Risk | Likely pathogenic | Nemaline myopathy 5, Nemaline myopathy 5 |
| RS1555855228 | Health Risk | Likely pathogenic | Nemaline myopathy 5, Nemaline myopathy 5 |
| RS2085575423 | Health Risk | Likely pathogenic | Nemaline myopathy 5, Nemaline myopathy 5 |
| RS2147253798 | Health Risk | Likely pathogenic | Nemaline myopathy 5, Nemaline myopathy 5 |
| RS2515403750 | Health Risk | Likely pathogenic | Nemaline myopathy 5, Nemaline myopathy 5C, autosomal dominant |
| RS2515441946 | Health Risk | Likely pathogenic | Nemaline myopathy 5, Nemaline myopathy 5 |
| RS2515443940 | Health Risk | Likely pathogenic | Nemaline myopathy 5, Nemaline myopathy 5B, autosomal recessive |
| RS2515470310 | Health Risk | Likely pathogenic | Nemaline myopathy 5, Nemaline myopathy 5 |
| RS2515474466 | Health Risk | Likely pathogenic | Nemaline myopathy 5, Nemaline myopathy 5 |
| RS766934517 | Health Risk | Likely pathogenic | Nemaline myopathy 5, Nemaline myopathy 5 |
| RS1166914763 | Health Risk | Pathogenic | Nemaline myopathy 5, Nemaline myopathy 5 |
| RS1224321111 | Health Risk | Pathogenic | Nemaline myopathy 5, Nemaline myopathy 5 |
| RS1250741190 | Health Risk | Pathogenic | Nemaline myopathy 5, Nemaline myopathy 5 |
| RS1401047759 | Health Risk | Pathogenic | — |
| RS1555859304 | Health Risk | Pathogenic | Nemaline myopathy 5, Nemaline myopathy 5 |
| RS1599896616 | Health Risk | Pathogenic | Nemaline myopathy 5, Nemaline myopathy 5 |
| RS2085299661 | Health Risk | Pathogenic | Nemaline myopathy 5, Nemaline myopathy 5 |
| RS2085439767 | Health Risk | Pathogenic | Nemaline myopathy 5, Nemaline myopathy 5 |
| RS2085561415 | Health Risk | Pathogenic | Nemaline myopathy 5, Nemaline myopathy 5 |
| RS2147244480 | Health Risk | Pathogenic | — |
| RS2515403962 | Health Risk | Pathogenic | Nemaline myopathy 5B, autosomal recessive, childhood-onset |
| RS2515404859 | Health Risk | Pathogenic | Nemaline myopathy 5, Nemaline myopathy 5 |
| RS2515421573 | Health Risk | Pathogenic | Nemaline myopathy 5, Nemaline myopathy 5 |
| RS2515444704 | Health Risk | Pathogenic | Nemaline myopathy 5C, autosomal dominant, Nemaline myopathy 5C |
| RS727504177 | Health Risk | Pathogenic | — |
| RS759458391 | Health Risk | Pathogenic | Nemaline myopathy 5B, autosomal recessive, childhood-onset |
| RS80358249 | Health Risk | Pathogenic | Nemaline myopathy 5, Nemaline myopathy 5 |
| RS149559898 | Health Risk | Pathogenic/Likely pathogenic | Nemaline myopathy 5, Nemaline myopathy 5 |
| RS1599875856 | Health Risk | Pathogenic/Likely pathogenic | Nemaline myopathy 5, Nemaline myopathy 5 |
| RS199701688 | Health Risk | Pathogenic/Likely pathogenic | Nemaline myopathy 5B, autosomal recessive, childhood-onset |
| RS2085385176 | Health Risk | Pathogenic/Likely pathogenic | Nemaline myopathy 5, Nemaline myopathy 5 |