UBE2D4 variants in ExAC

UBE2D4 gene summary
UBE2D4 variants in

The table below lists the UBE2D4 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. 43966161 c.24+6C>A splice site 0.06182995●●●●●●
2. 43978084 c.79G>A p.G27S missense 0.02065830●●●●●●
3. 43982449 c.113T>C p.M38T missense 0.00009066●●●●●●
4. 43990200 c.307C>G p.L103V missense 0.00007452●●●●●●
5. 43978037 c.32C>T p.T11I missense 0.00006589●●●●●●
6. 43988264 c.232A>G p.I78V missense 0.00004949●●●●●●
7. 43990227 c.334G>A p.D112N missense 0.00004122●●●●●●
8. 43978039 c.34G>A p.D12N missense 0.00004118●●●●●●
9. 43978060 c.55G>A p.A19T missense 0.00004118●●●●●●
10. 43982638 c.198+8C>T splice site 0.00003298●●●●●●
11. 43990260 c.367A>G p.I123V missense 0.00003298●●●●●●
12. 43988301 c.269G>A p.R90Q missense 0.00003296●●●●●●
13. 43990281 c.388G>A p.D130N missense 0.00002478●●●●●●
14. 43992265 c.415_416delAG p.Glu140ValfsTer36 frameshift 0.00002476●●●●●●
15. 43990239 c.346G>T p.D116Y missense 0.00002473●●●●●●
16. 43988304 c.272_273insTCA p.S91delinsSH inframe 0.00002472●●●●●●
17. 43988300 c.268C>T p.R90W missense 0.00002472●●●●●●
18. 43966163 c.24+8C>T splice site 0.00002280●●●●●●
19. 43992280 c.430A>G p.K144E missense 0.00001652●●●●●●
20. 43990222 c.329T>G p.L110R missense 0.00001649●●●●●●
21. 43982631 c.198+1G>T essential splice site 0.00001648●●●●●●
22. 43988280 c.248G>A p.S83N missense 0.00001648●●●●●●
23. 43990239 c.346G>A p.D116N missense 0.00001648●●●●●●
24. 43978093 c.88_88+1delTG essential splice site 0.00001647●●●●●●
25. 43982587 c.155T>C p.L52P missense 0.00001647●●●●●●
26. 43978079 c.74C>T p.P25L missense 0.00001647●●●●●●
27. 43978052 c.47A>G p.D16G missense 0.00001647●●●●●●
28. 43966136 c.5C>A p.A2E missense 0.00001309●●●●●●
29. 43966159 c.24+4C>A splice site 0.00001157●●●●●●
30. 43990296 c.398+5G>T splice site 0.00000831●●●●●●
31. 43988337 c.304+1G>T essential splice site 0.00000828●●●●●●
32. 43988251 c.219T>G p.I73M missense 0.00000827●●●●●●
33. 43988253 c.221A>G p.Y74C missense 0.00000826●●●●●●
34. 43988327 c.295G>A p.V99M missense 0.00000826●●●●●●
35. 43990206 c.313T>C p.S105P missense 0.00000826●●●●●●
36. 43990281 c.388_391delGACA p.Asp130GlufsTer7 frameshift 0.00000826●●●●●●
37. 43988253 c.221A>T p.Y74F missense 0.00000826●●●●●●
38. 43992281 c.431A>C p.K144T missense 0.00000826●●●●●●
39. 43988267 c.235A>T p.N79Y missense 0.00000825●●●●●●
40. 43988265 c.233T>C p.I78T missense 0.00000825●●●●●●
41. 43990272 c.379T>C p.Y127H missense 0.00000825●●●●●●
42. 43978078 c.73C>A p.P25T missense 0.00000824●●●●●●
43. 43982612 c.180delC p.Pro61ArgfsTer37 frameshift 0.00000824●●●●●●
44. 43978091 c.86A>T p.D29V missense 0.00000824●●●●●●
45. 43988288 c.256C>T p.L86F missense 0.00000824●●●●●●
46. 43978023 c.25-7G>T splice site 0.00000824●●●●●●
47. 43978073 c.68C>T p.A23V missense 0.00000824●●●●●●
48. 43988307 c.275A>T p.Q92L missense 0.00000824●●●●●●
49. 43988274 c.242A>G p.N81S missense 0.00000824●●●●●●
50. 43978028 c.25-2A>G essential splice site 0.00000824●●●●●●
51. 43982456 c.120G>A splice site 0.00000824●●●●●●
52. 43978094 c.88+1G>A essential splice site 0.00000824●●●●●●
53. 43978045 c.40C>T p.Q14X nonsense 0.00000824●●●●●●
54. 43978088 c.83A>G p.D28G missense 0.00000824●●●●●●
55. 43978057 c.52C>T p.P18S missense 0.00000824●●●●●●
56. 43990261 c.368T>A p.I123K missense 0.00000824●●●●●●
57. 43982636 c.198+6G>T splice site 0.00000824●●●●●●
58. 43982577 c.145_146insT p.Phe51LeufsTer27 frameshift 0.00000824●●●●●●
59. 43982455 c.119C>T p.P40L missense 0.00000824●●●●●●
60. 43988286 c.254G>T p.C85F missense 0.00000824●●●●●●
61. 43988304 c.272C>A p.S91Y 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.