TRIM55 splice variants in ExAC


The table below lists the TRIM55 splice 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. 67064613 c.987A>G p.E329E splice site 0.02313112
2. 67062485 c.860+11T>G splice site 0.00161608
3. 67064869 c.1236+7C>A splice site 0.00003362
4. 67039674 c.168+3A>G splice site 0.00003301
5. 67064869 c.1236+7C>T splice site 0.00002522
6. 67061872 c.604-8A>G splice site 0.00001740
7. 67061873 c.604-7C>T splice site 0.00001735
8. 67061875 c.604-5A>G splice site 0.00001725
9. 67049433 c.603+8A>G splice site 0.00001717
10. 67039675 c.168+4G>C splice site 0.00001651
11. 67040714 c.341+3A>C splice site 0.00001648
12. 67040716 c.341+5_341+12delCACTCTTC splice site 0.00001648
13. 67040534 c.169-5A>G splice site 0.00000857
14. 67049429 c.603+4A>G splice site 0.00000854
15. 67066274 c.1237-8T>C splice site 0.00000842
16. 67049324 c.508-6C>A splice site 0.00000841
17. 67062116 c.837+3A>G splice site 0.00000827
18. 67039678 c.168+7T>A splice site 0.00000826
19. 67039676 c.168+5G>T splice site 0.00000825
20. 67086700 c.1525-6T>C 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.