TRIM63 truncating variants in ExAC

TRIM63 gene summary
TRIM63 variants in

The table below lists the TRIM63 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. 26384973 c.739C>T p.Q247X nonsense 0.00048596●●●●●●
2. 26387677 c.481_482delAG p.S161Cfs*8 frameshift 0.00005791●●●●●●
3. 26386835 c.519T>A p.C173X nonsense 0.00004123●●●●●●
4. 26387656 c.501+1G>T essential splice site 0.00003349●●●●●●
5. 26392814 c.277C>T p.Q93X nonsense 0.00003300●●●●●●
6. 26393826 c.159+1G>A essential splice site 0.00002500●●●●●●
7. 26384879 c.831+2T>G essential splice site 0.00002479●●●●●●
8. 26387722 c.436_437insCC p.Lys146ThrfsTer26 frameshift 0.00002472●●●●●●
9. 26384931 c.781G>T p.E261X nonsense 0.00001647●●●●●●
10. 26378369 c.1057C>T p.Q353X nonsense 0.00000942●●●●●●
11. 26384118 c.854+1G>A essential splice site 0.00000874●●●●●●
12. 26380456 c.980-1G>A essential splice site 0.00000837●●●●●●
13. 26387826 c.333-1G>A essential splice site 0.00000835●●●●●●
14. 26387826 c.333-1G>C essential splice site 0.00000835●●●●●●
15. 26386768 c.586C>T p.R196X nonsense 0.00000825●●●●●●
16. 26383775 c.898C>T p.Q300X nonsense 0.00000824●●●●●●
17. 26387723 c.435C>A p.C145X nonsense 0.00000824●●●●●●
18. 26385027 c.685C>T p.Q229X nonsense 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.