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. 67061946 c.670G>T p.Glu224Ter nonsense 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. 67062628 c.912T>G p.Y304X nonsense 0.00006591
6. 67047224 c.342-1G>A essential splice site 0.00040444
7. 67066281 c.1237-1G>C essential splice site 0.00000835
8. 67047392 c.507+2T>C essential splice site 0.00000824
9. 67062576 c.861-1G>A essential splice site 0.00001649
10. 67064611 c.986-1_990delGAAGAT essential splice site 0.00003419
11. 67047371 c.488_489delAT p.H163Rfs*30 frameshift 0.00000824
12. 67062606 c.890delT p.M297Rfs*4 frameshift 0.00002472
13. 67064747 c.1121delA p.A376Lfs*35 frameshift 0.00005784
14. 67039530 c.27delT p.Ser11ProfsTer10 frameshift 0.00000824
15. 67047285 c.402delC p.Tyr135ThrfsTer3 frameshift 0.00000824
16. 67049409 c.587delC p.Cys197AlafsTer33 frameshift 0.00000833
17. 67061938 c.662delT p.Leu222TrpfsTer8 frameshift 0.00000825
18. 67061990 c.714delG p.Glu239ArgfsTer9 frameshift 0.00000824
19. 67062599 c.883delT p.Gln296ArgfsTer5 frameshift 0.00001648
20. 67064718 c.1092_1093delAG p.Glu365ValfsTer6 frameshift 0.00002481
21. 67064738 c.1112delA p.Asn372ThrfsTer39 frameshift 0.00009090
22. 67064828 c.1202delC p.Leu402CysfsTer9 frameshift 0.00000829
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.