TRIM55 truncating variants in ExAC


The table below lists the TRIM55 truncating variants found in the ExAC population database. 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. 67039530 c.27delT p.Ser11ProfsTer10 frameshift 0.00000824
2. 67039669 c.166C>T p.Q56X nonsense 0.00000825
3. 67040585 c.215C>A p.S72X nonsense 0.00002476
4. 67040593 c.223C>T p.R75X nonsense 0.00000825
5. 67047224 c.342-1G>A essential splice site 0.00040444
6. 67047285 c.402delC p.Tyr135ThrfsTer3 frameshift 0.00000824
7. 67047371 c.488_489delAT p.H163Rfs*30 frameshift 0.00000824
8. 67047392 c.507+2T>C essential splice site 0.00000824
9. 67049409 c.587delC p.Cys197AlafsTer33 frameshift 0.00000833
10. 67061938 c.662delT p.Leu222TrpfsTer8 frameshift 0.00000825
11. 67061946 c.670G>T p.Glu224Ter nonsense 0.00000824
12. 67061990 c.714delG p.Glu239ArgfsTer9 frameshift 0.00000824
13. 67062576 c.861-1G>A essential splice site 0.00001649
14. 67062599 c.883delT p.Gln296ArgfsTer5 frameshift 0.00001648
15. 67062606 c.890delT p.M297Rfs*4 frameshift 0.00002472
16. 67062628 c.912T>G p.Y304X nonsense 0.00006591
17. 67064611 c.986-1_990delGAAGAT essential splice site 0.00003419
18. 67064718 c.1092_1093delAG p.Glu365ValfsTer6 frameshift 0.00002481
19. 67064738 c.1112delA p.Asn372ThrfsTer39 frameshift 0.00009090
20. 67064747 c.1121delA p.A376Lfs*35 frameshift 0.00005784
21. 67064828 c.1202delC p.Leu402CysfsTer9 frameshift 0.00000829
22. 67066281 c.1237-1G>C essential splice site 0.00000835
23. 67086803 c.1622delC p.Trp542GlyfsTer2 frameshift 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.