SGCD variants in ExAC

SGCD gene summary
SGCD variants in DCM

The table below lists the SGCD 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. 0 c.-43-1G>A essential splice site 0.00001656●●●●●●
2. 0 c.-43-7C>T splice site 0.00000828●●●●●●
3. 0 c.-43-3C>A splice site 0.00000828●●●●●●
4. 155756587 c.1A>G p.Met1? missense 0.00000828●●●●●●
5. 155756590 c.3+1G>A essential splice site 0.00000828●●●●●●
6. 155756591 c.3+2T>A essential splice site 0.00001657●●●●●●
7. 155756592 c.3+3G>C splice site 0.00028995●●●●●●
8. 155771506 c.11A>C p.Q4P missense 0.00000828●●●●●●
9. 155771510 c.15G>C p.E5D missense 0.00138318●●●●●●
10. 155771526 c.31C>T p.R11W missense 0.00004141●●●●●●
11. 155771527 c.32G>A p.R11Q missense 0.00001656●●●●●●
12. 155771529 c.34A>G p.S12G missense 0.00000828●●●●●●
13. 155771551 c.56G>A p.G19E missense 0.00001656●●●●●●
14. 155771554 c.59C>T p.P20L missense 0.00000828●●●●●●
15. 155771556 c.61C>A p.Q21K missense 0.00000828●●●●●●
16. 155771563 c.68A>G p.Y23C missense 0.00001656●●●●●●
17. 155771572 c.77G>A p.G26E missense 0.00000828●●●●●●
18. 155771574 c.79A>G p.I27V missense 0.00002484●●●●●●
19. 155771580 c.85G>A p.G29S missense 0.00000828●●●●●●
20. 155771581 c.86G>T p.G29V missense 0.00000828●●●●●●
21. 155771584 c.89G>T p.W30L missense 0.00000829●●●●●●
22. 155771587 c.92G>A p.R31Q missense 0.00018236●●●●●●
23. 155771592 c.97C>T p.R33X nonsense 0.00000829●●●●●●
24. 155771596 c.101G>C p.C34S missense 0.00000828●●●●●●
25. 155771616 c.121C>T p.L41F missense 0.00001657●●●●●●
26. 155771620 c.125T>C p.L42P missense 0.00001657●●●●●●
27. 155771637 c.142G>T p.V48L missense 0.00000828●●●●●●
28. 155771655 c.160A>G p.I54V missense 0.00004144●●●●●●
29. 155771674 c.179T>C p.M60T missense 0.00000831●●●●●●
30. 155771685 c.190A>G p.I64V missense 0.00000833●●●●●●
31. 155771686 c.191T>C p.I64T missense 0.00006663●●●●●●
32. 155771690 c.192+3A>G splice site 0.00001668●●●●●●
33. 155771691 c.192+4A>G splice site 0.00000834●●●●●●
34. 155935603 c.193-8T>C splice site 0.00000942●●●●●●
35. 155935604 c.193-7A>G splice site 0.00004691●●●●●●
36. 155935612 c.194A>G p.D65G missense 0.00000909●●●●●●
37. 155935621 c.203G>C p.G68A missense 0.00000886●●●●●●
38. 155935630 c.212G>C p.R71T missense 0.00002612●●●●●●
39. 155935644 c.226G>T p.G76C missense 0.00000854●●●●●●
40. 155935683 c.265C>G p.L89V missense 0.00000845●●●●●●
41. 155935688 c.270_272delCGC p.Ala91del inframe 0.00000846●●●●●●
42. 155935707 c.289C>T p.R97X nonsense 0.00000859●●●●●●
43. 155935708 c.290G>A p.R97Q missense 0.04508810●●●●●●
44. 155935720 c.294+8T>C splice site 0.00672587●●●●●●
45. 156016286 c.340A>G p.I114V missense 0.00003270●●●●●●
46. 156016300 c.354G>T p.Q118H missense 0.00003268●●●●●●
47. 156016308 c.362T>G p.V121G missense 0.00003301●●●●●●
48. 156016316 c.370C>T p.Q124X nonsense 0.00003384●●●●●●
49. 156016324 c.378A>G p.I126M missense 0.00003430●●●●●●
50. 156016334 c.382+6A>T splice site 0.00003510●●●●●●
51. 156021942 c.383G>A p.G128D missense 0.00001416●●●●●●
52. 156021943 c.384T>C splice site 0.00001400●●●●●●
53. 156021953 c.394G>A p.V132I missense 0.00009737●●●●●●
54. 156021953 c.394G>T p.V132L missense 0.00001217●●●●●●
55. 156021956 c.397G>C p.E133Q missense 0.00001164●●●●●●
56. 156021960 c.401C>T p.A134V missense 0.00001112●●●●●●
57. 156022004 c.445C>G p.L149V missense 0.00000897●●●●●●
58. 156022010 c.451T>G p.S151A missense 0.00025953●●●●●●
59. 156022011 c.452C>T p.S151F missense 0.00000895●●●●●●
60. 156022017 c.458A>G p.D153G missense 0.00016153●●●●●●
61. 156022020 c.461A>G p.N154S missense 0.00000900●●●●●●
62. 156022027 c.468A>C p.E156D missense 0.00000913●●●●●●
63. 156022031 c.472G>A p.V158I missense 0.00000919●●●●●●
64. 156022047 c.488G>T p.R163I missense 0.00000984●●●●●●
65. 156022052 c.493C>G p.R165G missense 0.00001021●●●●●●
66. 156022053 c.494G>A p.R165Q missense 0.00009243●●●●●●
67. 156074482 c.511G>A p.G171S missense 0.00008716●●●●●●
68. 156074504 c.533T>C p.I178T missense 0.00005465●●●●●●
69. 156074518 c.547G>A p.V183I missense 0.00005546●●●●●●
70. 156074537 c.566A>G p.K189R missense 0.00002935●●●●●●
71. 156074544 c.573A>G splice site 0.00009200●●●●●●
72. 156074547 c.575+1G>A essential splice site 0.00003151●●●●●●
73. 156074553 c.575+7T>G splice site 0.00009716●●●●●●
74. 156184593 c.577T>C splice site 0.00001257●●●●●●
75. 156184609 c.593G>A p.R198Q missense 0.00002213●●●●●●
76. 156184638 c.622G>A p.V208M missense 0.00001090●●●●●●
77. 156184643 c.627A>T p.E209D missense 0.00002212●●●●●●
78. 156184647 c.631A>C p.N211H missense 0.00001117●●●●●●
79. 156184649 c.633T>G p.N211K missense 0.00001127●●●●●●
80. 156184666 c.650T>C p.M217T missense 0.00001182●●●●●●
81. 156184697 c.681delG p.Glu228AsnfsTer9 frameshift 0.00001361●●●●●●
82. 156184710 c.694G>A p.G232R missense 0.00001489●●●●●●
83. 156184711 c.695G>A p.G232E missense 0.00001488●●●●●●
84. 156184713 c.697G>A p.E233K missense 0.00006038●●●●●●
85. 156184726 c.699+11_699+13delAGA splice site 0.00289763●●●●●●
86. 156186244 c.716C>T p.A239V missense 0.00002490●●●●●●
87. 156186249 c.721A>G p.I241V missense 0.00000829●●●●●●
88. 156186254 c.726G>C p.R242S missense 0.00000829●●●●●●
89. 156186259 c.731C>T p.P244L missense 0.00004975●●●●●●
90. 156186270 c.742C>T p.H248Y missense 0.00002487●●●●●●
91. 156186277 c.749C>T p.S250F missense 0.00004144●●●●●●
92. 156186283 c.755C>T p.T252M missense 0.00013259●●●●●●
93. 156186289 c.761C>T p.T254I missense 0.00000829●●●●●●
94. 156186295 c.767C>T p.T256M missense 0.00009114●●●●●●
95. 156186321 c.793G>A p.V265I missense 0.00015746●●●●●●
96. 156186327 c.799G>A p.A267T missense 0.00000829●●●●●●
97. 156186331 c.803A>G p.N268S missense 0.00000829●●●●●●
98. 156186346 c.818T>A p.L273Q missense 0.00000830●●●●●●
99. 156186349 c.821C>T p.S274F missense 0.00000830●●●●●●
100. 156186360 c.832G>A p.A278T missense 0.00009991●●●●●●
101. 156186360 c.832G>T p.A278S missense 0.00002498●●●●●●
102. 156186363 c.835G>A p.G279R missense 0.00000833●●●●●●
103. 156186367 c.839C>T p.S280F missense 0.00000835●●●●●●
104. 156186369 c.841A>G p.T281A missense 0.00000835●●●●●●
105. 156186376 c.848A>G p.Q283R missense 0.00046959●●●●●●
106. 156186378 c.850A>T p.I284L missense 0.00000839●●●●●●
107. 156186379 c.851T>C p.I284T missense 0.00000840●●●●●●

* 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.