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