PDLIM3 truncating variants in ExAC

PDLIM3 gene summary
PDLIM3 variants in

The table below lists the PDLIM3 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. 186423519 c.1024G>T p.E342X nonsense 0.00000824●●●●●●
2. 186444575 c.271C>T p.Q91X nonsense 0.00000853●●●●●●
3. 186444582 c.264G>A p.W88X nonsense 0.00000862●●●●●●
4. 186444596 c.250G>T p.E84X nonsense 0.00000909●●●●●●
5. 186444599 c.247G>T p.G83X nonsense 0.00000930●●●●●●
6. 186446223 c.196C>T p.Q66X nonsense 0.00000824●●●●●●
7. 186456516 c.73C>T p.Q25X nonsense 0.00002109●●●●●●
8. 186427807 c.663-1G>A essential splice site 0.00000832●●●●●●
9. 186429719 c.399-3_399-2delCA essential splice site 0.00000834●●●●●●
10. 186435492 c.331-1G>A essential splice site 0.00000824●●●●●●
11. 186444602 c.246-2A>G essential splice site 0.00000949●●●●●●
12. 186456494 c.93+2T>C essential splice site 0.00001231●●●●●●
13. 186446242 c.177_178dupCA frameshift 0.00001647●●●●●●
14. 186425718 c.816dupG p.Ser273GlufsTer23 frameshift 0.00000837●●●●●●
15. 186425729 c.805delG p.Ala269LeufsTer6 frameshift 0.00000858●●●●●●
16. 186435469 c.353_356delAGCA p.Lys118IlefsTer9 frameshift 0.00000824●●●●●●
17. 186444579 c.267_268insA p.Pro90ThrfsTer5 frameshift 0.00000858●●●●●●
18. 186446246 c.173_174delAG p.Glu58ValfsTer6 frameshift 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.