SGCD protein-altering variants in ExAC

SGCD gene summary
SGCD variants in DCM

The table below lists the SGCD protein-altering 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. 156186360 c.832G>A p.A278T missense 0.00009991●●●●●●
2. 156021953 c.394G>A p.V132I missense 0.00009737●●●●●●
3. 156022053 c.494G>A p.R165Q missense 0.00009243●●●●●●
4. 156186295 c.767C>T p.T256M missense 0.00009114●●●●●●
5. 156074482 c.511G>A p.G171S missense 0.00008716●●●●●●
6. 155771686 c.191T>C p.I64T missense 0.00006663●●●●●●
7. 156184713 c.697G>A p.E233K missense 0.00006038●●●●●●
8. 156074518 c.547G>A p.V183I missense 0.00005546●●●●●●
9. 156074504 c.533T>C p.I178T missense 0.00005465●●●●●●
10. 156186259 c.731C>T p.P244L missense 0.00004975●●●●●●
11. 155771655 c.160A>G p.I54V missense 0.00004144●●●●●●
12. 156186277 c.749C>T p.S250F missense 0.00004144●●●●●●
13. 155771526 c.31C>T p.R11W missense 0.00004141●●●●●●
14. 156016324 c.378A>G p.I126M missense 0.00003430●●●●●●
15. 156016316 c.370C>T p.Q124X nonsense 0.00003384●●●●●●
16. 156016308 c.362T>G p.V121G missense 0.00003301●●●●●●
17. 156016286 c.340A>G p.I114V missense 0.00003270●●●●●●
18. 156016300 c.354G>T p.Q118H missense 0.00003268●●●●●●
19. 156074547 c.575+1G>A essential splice site 0.00003151●●●●●●
20. 156074537 c.566A>G p.K189R missense 0.00002935●●●●●●
21. 155935630 c.212G>C p.R71T missense 0.00002612●●●●●●
22. 156186360 c.832G>T p.A278S missense 0.00002498●●●●●●
23. 156186244 c.716C>T p.A239V missense 0.00002490●●●●●●
24. 156186270 c.742C>T p.H248Y missense 0.00002487●●●●●●
25. 155771574 c.79A>G p.I27V missense 0.00002484●●●●●●
26. 156184609 c.593G>A p.R198Q missense 0.00002213●●●●●●
27. 156184643 c.627A>T p.E209D missense 0.00002212●●●●●●
28. 155771620 c.125T>C p.L42P missense 0.00001657●●●●●●
29. 155756591 c.3+2T>A essential splice site 0.00001657●●●●●●
30. 155771616 c.121C>T p.L41F missense 0.00001657●●●●●●
31. 155771527 c.32G>A p.R11Q missense 0.00001656●●●●●●
32. 155771563 c.68A>G p.Y23C missense 0.00001656●●●●●●
33. 155771551 c.56G>A p.G19E missense 0.00001656●●●●●●
34. 0 c.-43-1G>A essential splice site 0.00001656●●●●●●
35. 156184710 c.694G>A p.G232R missense 0.00001489●●●●●●
36. 156184711 c.695G>A p.G232E missense 0.00001488●●●●●●
37. 156021942 c.383G>A p.G128D missense 0.00001416●●●●●●
38. 156184697 c.681delG p.Glu228AsnfsTer9 frameshift 0.00001361●●●●●●
39. 156021953 c.394G>T p.V132L missense 0.00001217●●●●●●
40. 156184666 c.650T>C p.M217T missense 0.00001182●●●●●●
41. 156021956 c.397G>C p.E133Q missense 0.00001164●●●●●●
42. 156184649 c.633T>G p.N211K missense 0.00001127●●●●●●
43. 156184647 c.631A>C p.N211H missense 0.00001117●●●●●●
44. 156021960 c.401C>T p.A134V missense 0.00001112●●●●●●
45. 156184638 c.622G>A p.V208M missense 0.00001090●●●●●●
46. 156022052 c.493C>G p.R165G missense 0.00001021●●●●●●
47. 156022047 c.488G>T p.R163I missense 0.00000984●●●●●●
48. 156022031 c.472G>A p.V158I missense 0.00000919●●●●●●
49. 156022027 c.468A>C p.E156D missense 0.00000913●●●●●●
50. 155935612 c.194A>G p.D65G missense 0.00000909●●●●●●
51. 156022020 c.461A>G p.N154S missense 0.00000900●●●●●●
52. 156022004 c.445C>G p.L149V missense 0.00000897●●●●●●
53. 156022011 c.452C>T p.S151F missense 0.00000895●●●●●●
54. 155935621 c.203G>C p.G68A missense 0.00000886●●●●●●
55. 155935707 c.289C>T p.R97X nonsense 0.00000859●●●●●●
56. 155935644 c.226G>T p.G76C missense 0.00000854●●●●●●
57. 155935688 c.270_272delCGC p.Ala91del inframe 0.00000846●●●●●●
58. 155935683 c.265C>G p.L89V missense 0.00000845●●●●●●
59. 156186379 c.851T>C p.I284T missense 0.00000840●●●●●●
60. 156186378 c.850A>T p.I284L missense 0.00000839●●●●●●
61. 156186367 c.839C>T p.S280F missense 0.00000835●●●●●●
62. 156186369 c.841A>G p.T281A missense 0.00000835●●●●●●
63. 155771685 c.190A>G p.I64V missense 0.00000833●●●●●●
64. 156186363 c.835G>A p.G279R missense 0.00000833●●●●●●
65. 155771674 c.179T>C p.M60T missense 0.00000831●●●●●●
66. 156186346 c.818T>A p.L273Q missense 0.00000830●●●●●●
67. 156186349 c.821C>T p.S274F missense 0.00000830●●●●●●
68. 155771584 c.89G>T p.W30L missense 0.00000829●●●●●●
69. 156186331 c.803A>G p.N268S missense 0.00000829●●●●●●
70. 155771592 c.97C>T p.R33X nonsense 0.00000829●●●●●●
71. 156186249 c.721A>G p.I241V missense 0.00000829●●●●●●
72. 156186289 c.761C>T p.T254I missense 0.00000829●●●●●●
73. 156186254 c.726G>C p.R242S missense 0.00000829●●●●●●
74. 156186327 c.799G>A p.A267T missense 0.00000829●●●●●●
75. 155756590 c.3+1G>A essential splice site 0.00000828●●●●●●
76. 155771580 c.85G>A p.G29S missense 0.00000828●●●●●●
77. 155771596 c.101G>C p.C34S missense 0.00000828●●●●●●
78. 155771637 c.142G>T p.V48L missense 0.00000828●●●●●●
79. 155771529 c.34A>G p.S12G missense 0.00000828●●●●●●
80. 155771554 c.59C>T p.P20L missense 0.00000828●●●●●●
81. 155771581 c.86G>T p.G29V missense 0.00000828●●●●●●
82. 155756587 c.1A>G p.Met1? missense 0.00000828●●●●●●
83. 155771572 c.77G>A p.G26E missense 0.00000828●●●●●●
84. 155771556 c.61C>A p.Q21K missense 0.00000828●●●●●●
85. 155771506 c.11A>C p.Q4P missense 0.00000828●●●●●●

* 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.