TMEM43 truncating variants in ExAC


The table below lists the TMEM43 truncating variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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. 14183113 c.1021C>T p.R341X nonsense 0.00003295
2. 14174410 c.487C>T p.R163X nonsense 0.00002471
3. 14180695 c.898G>T p.E300X nonsense 0.00001648
4. 14180799 c.1000+2T>C essential splice site 0.00001647
5. 14173153 c.371delG p.Val125Ter frameshift 0.00000849
6. 14172457 c.297+1G>A essential splice site 0.00000840
7. 14173131 c.349_350insG p.His118AlafsTer11 frameshift 0.00000839
8. 14176657 c.706-1G>T essential splice site 0.00000838
9. 14176657 c.706-1G>C essential splice site 0.00000838
10. 14176671 c.719_720insT p.Val241CysfsTer12 frameshift 0.00000835
11. 14172320 c.163-2A>G essential splice site 0.00000828
12. 14177337 c.811C>T p.Gln271Ter nonsense 0.00000826
13. 14174404 c.481delT p.Phe161SerfsTer46 frameshift 0.00000824
14. 14174436 c.512+1G>T essential splice site 0.00000824
15. 14175304 c.578C>A p.S193X nonsense 0.00000824
16. 14180678 c.883-2A>C essential splice site 0.00000824
17. 14183206 c.1114C>T p.R372X 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.