TRIM55 truncating variants in ExAC

TRIM55 gene summary
TRIM55 variants in

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

* 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.