EIF2S1 variants in ExAC

EIF2S1 gene summary
EIF2S1 variants in

The table below lists the EIF2S1 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. 67831497 c.13A>C p.S5R missense 0.00012392●●●●●●
2. 67849314 c.822+7T>G splice site 0.00007417●●●●●●
3. 67849240 c.755G>A p.S252N missense 0.00006590●●●●●●
4. 67849242 c.757C>G p.Q253E missense 0.00006590●●●●●●
5. 67850136 c.927G>A p.M309I missense 0.00005843●●●●●●
6. 67841257 c.314C>G p.S105C missense 0.00005004●●●●●●
7. 67850149 c.940G>C p.E314Q missense 0.00004197●●●●●●
8. 67849200 c.715A>G p.T239A missense 0.00004121●●●●●●
9. 67849186 c.701G>A p.R234Q missense 0.00003299●●●●●●
10. 67843150 c.322-6T>A splice site 0.00002737●●●●●●
11. 67843180 c.346G>T p.A116S missense 0.00002496●●●●●●
12. 67843207 c.373G>A p.E125K missense 0.00002480●●●●●●
13. 67849206 c.721A>G p.T241A missense 0.00002472●●●●●●
14. 67831730 c.241+5G>C splice site 0.00001672●●●●●●
15. 67850131 c.922G>T p.E308X nonsense 0.00001666●●●●●●
16. 67849185 c.700C>T p.R234W missense 0.00001650●●●●●●
17. 67849293 c.808A>C p.N270H missense 0.00001648●●●●●●
18. 67848360 c.631G>T p.A211S missense 0.00001648●●●●●●
19. 67848399 c.670C>G p.P224A missense 0.00001648●●●●●●
20. 67831608 c.124A>G p.I42V missense 0.00001647●●●●●●
21. 67831603 c.119A>G p.N40S missense 0.00001647●●●●●●
22. 67843150 c.322-6T>G splice site 0.00000912●●●●●●
23. 0 c.-1-3C>A splice site 0.00000844●●●●●●
24. 67847481 c.579A>G p.A193A splice site 0.00000843●●●●●●
25. 67841272 c.321+8G>A splice site 0.00000841●●●●●●
26. 67847477 c.575G>T p.R192L missense 0.00000839●●●●●●
27. 67847386 c.484A>G p.I162V missense 0.00000839●●●●●●
28. 67843172 c.338G>A p.R113H missense 0.00000838●●●●●●
29. 67850029 c.823-3C>T splice site 0.00000837●●●●●●
30. 67847393 c.491A>G p.D164G missense 0.00000835●●●●●●
31. 67850126 c.917C>T p.A306V missense 0.00000832●●●●●●
32. 67847409 c.507T>G p.N169K missense 0.00000831●●●●●●
33. 67831726 c.241+1_241+4delGTAA essential splice site 0.00000831●●●●●●
34. 67831489 c.5C>G p.P2R missense 0.00000831●●●●●●
35. 67849161 c.679-3T>C splice site 0.00000830●●●●●●
36. 67847419 c.517C>T p.R173W missense 0.00000830●●●●●●
37. 67841230 c.287T>C p.I96T missense 0.00000830●●●●●●
38. 67850072 c.863G>A p.R288K missense 0.00000829●●●●●●
39. 67831506 c.22T>G p.F8V missense 0.00000825●●●●●●
40. 67831704 c.220A>G p.I74V missense 0.00000825●●●●●●
41. 67843253 c.419A>G p.D140G missense 0.00000824●●●●●●
42. 67848400 c.671C>T p.P224L missense 0.00000824●●●●●●
43. 67843256 c.422A>T p.K141M missense 0.00000824●●●●●●
44. 67831646 c.162G>C p.R54S missense 0.00000824●●●●●●
45. 67831563 c.79A>G p.I27V missense 0.00000824●●●●●●
46. 67849302 c.817A>T p.M273L missense 0.00000824●●●●●●
47. 67849219 c.734C>T p.T245I missense 0.00000824●●●●●●
48. 67843262 c.428A>G p.K143R missense 0.00000824●●●●●●
49. 67831692 c.208T>C p.C70R missense 0.00000824●●●●●●
50. 67849248 c.763A>C p.M255L missense 0.00000824●●●●●●
51. 67843283 c.449A>G p.Y150C missense 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.