TNNC1
troponin C1, slow skeletal and cardiac type
Summary
Troponin is a central regulatory protein of striated muscle contraction, and together with tropomyosin, is located on the actin filament. Troponin consists of 3 subunits: TnI, which is the inhibitor of actomyosin ATPase; TnT, which contains the binding site for tropomyosin; and TnC, the protein encoded by this gene. The binding of calcium to TnC abolishes the inhibitory action of TnI, thus allowing the interaction of actin with myosin, the hydrolysis of ATP, and the generation of tension. Mutations in this gene are associated with cardiomyopathy dilated type 1Z. [provided by RefSeq, Oct 2008]
Known Variants251 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs767505879 | 3:52,485,105 | G/C | — | benign |
| rs41292360 | 3:52,485,164 | G/A | — | conflicting classifications of pathogenicity |
| rs545578624 | 3:52,485,168 | C/T | — | benign |
| rs115688995 | 3:52,485,208 | T/G | — | likely benign |
| rs2153229907 | 3:52,485,214 | C/A | — | benign |
| rs886058706 | 3:52,485,216 | C/T | — | uncertain significance |
| rs760637468 | 3:52,485,283 | G/A | — | uncertain significance |
| rs2471443414 | 3:52,485,291 | C/A | — | uncertain significance |
| rs926673131 | 3:52,485,294 | C/T | — | likely benign |
| rs727504896 | 3:52,485,297 | C/T | — | likely benign |
| rs104893823 | 3:52,485,301 | C/T | missense variant | pathogenic |
| rs770807038 | 3:52,485,303 | C/T | — | likely benign |
| rs1553651622 | 3:52,485,304 | T/G | — | uncertain significance |
| rs2153229911 | 3:52,485,307 | A/C | — | uncertain significance |
| rs730880230 | 3:52,485,308 | T/A | — | uncertain significance |
| rs568828576 | 3:52,485,321 | C/G | — | uncertain significance |
| rs2471443440 | 3:52,485,325 | G/A | — | uncertain significance |
| rs2153229913 | 3:52,485,327 | G/A | — | likely benign |
| rs1706318738 | 3:52,485,328 | G/C | — | conflicting classifications of pathogenicity |
| rs587780966 | 3:52,485,336 | G/T | — | benign |
| rs763016039 | 3:52,485,340 | G/A | — | likely benign |
| rs764547083 | 3:52,485,341 | G/T | — | likely benign |
| rs754572435 | 3:52,485,390 | C/T | — | likely benign |
| rs2471443533 | 3:52,485,391 | C/T | — | uncertain significance |
| rs2471443535 | 3:52,485,392 | C/T | — | likely benign |
| rs1347997568 | 3:52,485,399 | C/G | — | likely benign |
| rs747842576 | 3:52,485,400 | C/T | — | conflicting classifications of pathogenicity |
| rs750021293 | 3:52,485,401 | G/C | — | uncertain significance |
| rs777568062 | 3:52,485,404 | T/C | — | uncertain significance |
| rs1436187022 | 3:52,485,407 | C/T | — | pathogenic |
| rs1060502611 | 3:52,485,409 | T/A | — | uncertain significance |
| rs730881062 | 3:52,485,415 | T/C | missense variant | uncertain significance |
| rs397516849 | 3:52,485,416 | C/T | — | conflicting classifications of pathogenicity |
| rs149428762 | 3:52,485,417 | G/A | — | conflicting classifications of pathogenicity |
| rs397516848 | 3:52,485,419 | T/C | missense variant | uncertain significance |
| rs769919235 | 3:52,485,421 | C/T | — | uncertain significance |
| rs796243470 | 3:52,485,422 | G/A | — | uncertain significance |
| rs567327895 | 3:52,485,425 | C/T | — | uncertain significance |
| rs267607124 | 3:52,485,426 | G/A | synonymous variant | likely benign |
| rs2471443607 | 3:52,485,427 | T/A | — | uncertain significance |
| rs142759728 | 3:52,485,428 | C/T | — | uncertain significance |
| rs767979684 | 3:52,485,429 | G/A | — | likely benign |
| rs750978833 | 3:52,485,430 | T/C | — | uncertain significance |
| rs730881061 | 3:52,485,431 | T/C | missense variant | pathogenic |
| rs1578263746 | 3:52,485,432 | G/T | — | uncertain significance |
| rs756513152 | 3:52,485,435 | C/G | — | uncertain significance |
| rs764835690 | 3:52,485,442 | C/T | — | uncertain significance |
| rs752100917 | 3:52,485,443 | C/T | — | uncertain significance |
| rs757904305 | 3:52,485,444 | G/A | — | likely benign |
| rs2471443630 | 3:52,485,445 | T/G | — | uncertain significance |
| rs2471443631 | 3:52,485,449 | T/C | — | uncertain significance |
| rs746663998 | 3:52,485,453 | G/A | — | likely benign |
| rs1706325583 | 3:52,485,457 | T/G | — | uncertain significance |
| rs397516847 | 3:52,485,459 | C/A | — | uncertain significance |
| rs1553651640 | 3:52,485,461 | C/T | — | uncertain significance |
| rs2471443651 | 3:52,485,462 | G/A | — | likely benign |
| rs922957538 | 3:52,485,464 | T/C | — | uncertain significance |
| rs2471443652 | 3:52,485,465 | G/A | — | likely benign |
| rs397516846 | 3:52,485,467 | C/T | — | uncertain significance |
| rs147821122 | 3:52,485,468 | G/T | — | uncertain significance |
| rs397516845 | 3:52,485,474 | C/G | — | conflicting classifications of pathogenicity |
| rs749367654 | 3:52,485,475 | G/A | — | uncertain significance |
| rs1578263808 | 3:52,485,477 | G/A | — | likely benign |
| rs1553651649 | 3:52,485,478 | A/G | — | uncertain significance |
| rs730881060 | 3:52,485,485 | C/T | — | uncertain significance |
| rs141289590 | 3:52,485,486 | G/T | — | likely benign |
| rs1421384434 | 3:52,485,489 | T/C | — | likely benign |
| rs2471443689 | 3:52,485,491 | T/G | — | uncertain significance |
| rs773410670 | 3:52,485,498 | C/A | — | likely benign |
| rs200296115 | 3:52,485,505 | A/G | — | uncertain significance |
| rs1559615765 | 3:52,485,506 | T/C | — | uncertain significance |
| rs1578263846 | 3:52,485,507 | C/A | — | uncertain significance |
| rs1456915136 | 3:52,485,510 | C/T | — | likely benign |
| rs1060502610 | 3:52,485,513 | C/A | — | uncertain significance |
| rs2153229918 | 3:52,485,520 | A/C | — | uncertain significance |
| rs1008677119 | 3:52,485,522 | G/T | — | uncertain significance |
| rs369639550 | 3:52,485,524 | C/T | — | uncertain significance |
| rs763584637 | 3:52,485,525 | G/C | — | uncertain significance |
| rs756860563 | 3:52,485,527 | T/C | — | uncertain significance |
| rs2471443736 | 3:52,485,531 | G/C | — | likely benign |
| rs1559615797 | 3:52,485,533 | C/A | — | uncertain significance |
| rs1191773624 | 3:52,485,534 | A/G | — | likely benign |
| rs145066209 | 3:52,485,537 | A/G | — | likely benign |
| rs2153229919 | 3:52,485,540 | A/C | — | uncertain significance |
| rs1559615815 | 3:52,485,549 | G/C | — | uncertain significance |
| rs750230750 | 3:52,485,550 | G/A | — | likely benign |
| rs1227381581 | 3:52,485,552 | A/T | — | likely benign |
| rs2471443767 | 3:52,485,557 | G/T | — | likely benign |
| rs905452034 | 3:52,485,742 | C/T | — | likely benign |
| rs761287435 | 3:52,485,751 | C/T | — | likely benign |
| rs767111898 | 3:52,485,752 | G/T | — | uncertain significance |
| rs2471444129 | 3:52,485,753 | T/C | — | likely benign |
| rs2153229925 | 3:52,485,754 | G/C | — | uncertain significance |
| rs111972756 | 3:52,485,759 | C/T | — | pathogenic |
| rs2471444135 | 3:52,485,763 | T/C | — | uncertain significance |
| rs1706330427 | 3:52,485,764 | C/G | — | uncertain significance |
| rs2153229926 | 3:52,485,768 | C/T | — | uncertain significance |
| rs1472014912 | 3:52,485,770 | T/G | — | uncertain significance |
| rs1578264011 | 3:52,485,771 | G/A | — | uncertain significance |
| rs143020831 | 3:52,485,772 | C/A | — | uncertain significance |
Showing 100 of 251 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.