TMEM43 truncating variants in ExAC

TMEM43 gene summary
TMEM43 variants in DCM

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 frequency▼Populations*
1. 14174410 c.487C>T p.R163X nonsense 0.00002471●●●●●●
2. 14175304 c.578C>A p.S193X nonsense 0.00000824●●●●●●
3. 14177337 c.811C>T p.Gln271Ter nonsense 0.00000826●●●●●●
4. 14180695 c.898G>T p.E300X nonsense 0.00001648●●●●●●
5. 14183113 c.1021C>T p.R341X nonsense 0.00003295●●●●●●
6. 14183206 c.1114C>T p.R372X nonsense 0.00000824●●●●●●
7. 14172320 c.163-2A>G essential splice site 0.00000828●●●●●●
8. 14172457 c.297+1G>A essential splice site 0.00000840●●●●●●
9. 14174436 c.512+1G>T essential splice site 0.00000824●●●●●●
10. 14176657 c.706-1G>C essential splice site 0.00000838●●●●●●
11. 14176657 c.706-1G>T essential splice site 0.00000838●●●●●●
12. 14180678 c.883-2A>C essential splice site 0.00000824●●●●●●
13. 14180799 c.1000+2T>C essential splice site 0.00001647●●●●●●
14. 14173131 c.349_350insG p.His118AlafsTer11 frameshift 0.00000839●●●●●●
15. 14173153 c.371delG p.Val125Ter frameshift 0.00000849●●●●●●
16. 14174404 c.481delT p.Phe161SerfsTer46 frameshift 0.00000824●●●●●●
17. 14176671 c.719_720insT p.Val241CysfsTer12 frameshift 0.00000835●●●●●●

* 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.