TNNC1 protein-altering variants in ExAC

TNNC1 gene summary
TNNC1 variants in DCM, HCM

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 frequency▼Populations*
1. 52488007 c.24+1G>A essential splice site 0.00002368●●●●●●
2. 52486162 c.162delT p.Glu55ArgfsTer6 frameshift 0.00000826●●●●●●
3. 52485869 c.208G>A p.G70S missense 0.00001651●●●●●●
4. 52485852 c.225T>G p.D75E missense 0.00000825●●●●●●
5. 52485835 c.242T>C p.M81T missense 0.00000825●●●●●●
6. 52485834 c.243G>C p.M81I missense 0.00000825●●●●●●
7. 52485818 c.259G>T p.D87Y missense 0.00000825●●●●●●
8. 52485779 c.298C>A p.L100I missense 0.00000825●●●●●●
9. 52485773 c.304C>T p.R102C missense 0.00000825●●●●●●
10. 52485772 c.305G>T p.R102L missense 0.00001651●●●●●●
11. 52485772 c.305G>A p.R102H missense 0.00000826●●●●●●
12. 52485761 c.316A>C p.K106Q missense 0.00000826●●●●●●
13. 52485527 c.334A>T p.I112F missense 0.00000828●●●●●●
14. 52485524 c.337G>A p.D113N missense 0.00001655●●●●●●
15. 52485505 c.356T>C p.I119T missense 0.00000828●●●●●●
16. 52485501 c.360G>A p.M120I missense 0.00000828●●●●●●
17. 52485494 c.367G>A p.A123T missense 0.00000828●●●●●●
18. 52485485 c.376G>A p.E126K missense 0.00000828●●●●●●
19. 52485475 c.386C>T p.T129M missense 0.00000829●●●●●●
20. 52485458 c.403G>A p.E135K missense 0.00000829●●●●●●
21. 52485451 c.410T>C p.M137T missense 0.00000829●●●●●●
22. 52485442 c.419G>A p.G140E missense 0.00000829●●●●●●
23. 52485435 c.426G>C p.K142N missense 0.00000829●●●●●●
24. 52485430 c.431A>G p.N144S missense 0.00000829●●●●●●
25. 52485428 c.433G>A p.D145N missense 0.00000829●●●●●●
26. 52485426 c.435C>G p.D145E missense 0.00000829●●●●●●
27. 52485425 c.436G>A p.G146S missense 0.00001659●●●●●●
28. 52485421 c.440G>A p.R147H missense 0.00000830●●●●●●
29. 52485419 c.442A>G p.I148V missense 0.00000829●●●●●●
30. 52485308 c.469A>C p.M157L missense 0.00000829●●●●●●
31. 52485303 c.474G>C p.K158N missense 0.00000830●●●●●●

* 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.