FKTN truncating variants in ExAC

FKTN gene summary
FKTN variants in

The table below lists the FKTN 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. 108382330 c.1160_1161insA p.F390Ifs*49 frameshift 0.00028307●●●●●●
2. 108366764 c.638_639insT p.Asp215Ter frameshift 0.00014092●●●●●●
3. 108370218 c.766C>T p.R256X nonsense 0.00004956●●●●●●
4. 108366537 c.411C>A p.Cys137Ter nonsense 0.00004120●●●●●●
5. 108358912 c.139C>T p.R47X nonsense 0.00002475●●●●●●
6. 108397538 c.1379_1380insA p.Tyr461IlefsX4 frameshift 0.00002472●●●●●●
7. 108382270 c.1100delT p.Phe369SerfsTer37 frameshift 0.00001660●●●●●●
8. 108380248 c.919C>T p.R307X nonsense 0.00000969●●●●●●
9. 108363630 c.369+1G>C essential splice site 0.00000831●●●●●●
10. 108370233 c.780+1G>T essential splice site 0.00000827●●●●●●
11. 108363587 c.327_328insT p.Thr111TyrfsTer13 frameshift 0.00000826●●●●●●
12. 108370110 c.658C>T p.Q220X nonsense 0.00000825●●●●●●
13. 108370099 c.648-1G>C essential splice site 0.00000825●●●●●●
14. 108366581 c.455_456delCA p.S154Wfs*3 frameshift 0.00000824●●●●●●
15. 108397520 c.1361delG p.Asp455MetfsTer12 frameshift 0.00000824●●●●●●
16. 108397544 c.1385G>A nonsense 0.00000824●●●●●●
17. 108366733 c.607C>T p.R203X 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.