TNNC1 protein-altering variants in ExAC


The table below lists the TNNC1 protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord. Variant (CDS) Variant (Protein) Variant Type ExAC frequencyPopulations*
1. 52488007 c.24+1G>A essential splice site 0.00002368
2. 52485425 c.436G>A p.G146S missense 0.00001659
3. 52485524 c.337G>A p.D113N missense 0.00001655
4. 52485772 c.305G>T p.R102L missense 0.00001651
5. 52485869 c.208G>A p.G70S missense 0.00001651
6. 52485421 c.440G>A p.R147H missense 0.00000830
7. 52485303 c.474G>C p.K158N missense 0.00000830
8. 52485430 c.431A>G p.N144S missense 0.00000829
9. 52485419 c.442A>G p.I148V missense 0.00000829
10. 52485458 c.403G>A p.E135K missense 0.00000829
11. 52485435 c.426G>C p.K142N missense 0.00000829
12. 52485428 c.433G>A p.D145N missense 0.00000829
13. 52485475 c.386C>T p.T129M missense 0.00000829
14. 52485442 c.419G>A p.G140E missense 0.00000829
15. 52485426 c.435C>G p.D145E missense 0.00000829
16. 52485451 c.410T>C p.M137T missense 0.00000829
17. 52485308 c.469A>C p.M157L missense 0.00000829
18. 52485527 c.334A>T p.I112F missense 0.00000828
19. 52485501 c.360G>A p.M120I missense 0.00000828
20. 52485485 c.376G>A p.E126K missense 0.00000828
21. 52485505 c.356T>C p.I119T missense 0.00000828
22. 52485494 c.367G>A p.A123T missense 0.00000828
23. 52485772 c.305G>A p.R102H missense 0.00000826
24. 52486162 c.162delT p.Glu55ArgfsTer6 frameshift 0.00000826
25. 52485761 c.316A>C p.K106Q missense 0.00000826
26. 52485773 c.304C>T p.R102C missense 0.00000825
27. 52485818 c.259G>T p.D87Y missense 0.00000825
28. 52485834 c.243G>C p.M81I missense 0.00000825
29. 52485835 c.242T>C p.M81T missense 0.00000825
30. 52485852 c.225T>G p.D75E missense 0.00000825
31. 52485779 c.298C>A p.L100I missense 0.00000825

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

Genomic coordinates refer to the GRCh37 release of the human genome.