TRIM54 truncating variants in ExAC

TRIM54 gene summary
TRIM54 variants in

The table below lists the TRIM54 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. 27505740 c.141C>A p.C47X nonsense 0.00001667●●●●●●
2. 27521584 c.318_319insA p.Ile107AsnfsTer15 frameshift 0.00000839●●●●●●
3. 27521608 c.341+1G>T essential splice site 0.00000857●●●●●●
4. 27522165 c.394G>T p.E132X nonsense 0.00008248●●●●●●
5. 27522247 c.476delA p.Glu159GlyfsTer46 frameshift 0.00000838●●●●●●
6. 27522265 c.494_495insCT p.Ile166SerfsTer40 frameshift 0.00001721●●●●●●
7. 27522284 c.513delG p.A172Pfs*64 frameshift 0.00030726●●●●●●
8. 27527825 c.640-2A>G essential splice site 0.00001806●●●●●●
9. 27528483 c.767_768insC p.Gln257ProfsTer4 frameshift 0.00000897●●●●●●
10. 27528572 c.856C>T p.Q286X nonsense 0.00000957●●●●●●
11. 27528596 c.880C>T p.Q294X nonsense 0.00002967●●●●●●
12. 27528599 c.883_884insA p.Tyr295Ter frameshift 0.00040657●●●●●●
13. 27528647 c.931C>T p.Q311X nonsense 0.00001135●●●●●●
14. 27528676 c.960_961insT p.Tyr321LeufsTer11 frameshift 0.00001390●●●●●●
15. 27528686 c.969+1G>C essential splice site 0.00001561●●●●●●
16. 27529206 c.1117+1G>C essential splice site 0.00005811●●●●●●
17. 27529359 c.1153G>T p.G385X nonsense 0.00002590●●●●●●

* 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.