ACTC1 variants in ExAC

ACTC1 gene summary
ACTC1 variants in DCM, HCM

The table below lists the ACTC1 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. 35085437 c.454+9G>A splice site 0.00081876●●●●●●
2. 35086875 c.129+6C>G splice site 0.00047205●●●●●●
3. 35083504 c.809-8G>A splice site 0.00004227●●●●●●
4. 35084476 c.623G>A p.R208H missense 0.00004119●●●●●●
5. 35083309 c.990+6G>C splice site 0.00003546●●●●●●
6. 35084489 c.617-7T>C splice site 0.00003296●●●●●●
7. 35086982 c.28C>A p.L10M missense 0.00002517●●●●●●
8. 35084777 c.455-7C>T splice site 0.00002473●●●●●●
9. 35085671 c.229A>G p.I77V missense 0.00002471●●●●●●
10. 35085774 c.130-4A>T splice site 0.00001716●●●●●●
11. 35083338 c.967G>A p.A323T missense 0.00001715●●●●●●
12. 35086991 c.19A>T p.T7S missense 0.00001676●●●●●●
13. 35086987 c.23C>G p.T8S missense 0.00001676●●●●●●
14. 35082753 c.994A>G p.I332V missense 0.00001654●●●●●●
15. 35085683 c.217A>G p.I73V missense 0.00001648●●●●●●
16. 35086878 c.129+3A>G splice site 0.00000918●●●●●●
17. 35086904 c.106A>G p.I36V missense 0.00000871●●●●●●
18. 35085775 c.130-5C>T splice site 0.00000861●●●●●●
19. 35085773 c.130-3T>C splice site 0.00000858●●●●●●
20. 35085768 c.132A>C splice site 0.00000845●●●●●●
21. 0 c.-22-5T>A splice site 0.00000843●●●●●●
22. 35086954 c.56_57insCA p.Lys20ArgfsTer38 frameshift 0.00000843●●●●●●
23. 0 c.-22-5T>C splice site 0.00000843●●●●●●
24. 35087037 c.-22-6C>T splice site 0.00000843●●●●●●
25. 0 c.-22-1G>A essential splice site 0.00000842●●●●●●
26. 35087030 c.-21A>G splice site 0.00000842●●●●●●
27. 35087008 c.2T>C p.Met1? missense 0.00000839●●●●●●
28. 35085441 c.454+5G>C splice site 0.00000827●●●●●●
29. 35084386 c.713T>C p.L238P missense 0.00000824●●●●●●
30. 35084689 c.536G>T p.R179L missense 0.00000824●●●●●●
31. 35084601 c.616+8T>C splice site 0.00000824●●●●●●
32. 35085632 c.268C>T p.H90Y missense 0.00000824●●●●●●
33. 35085619 c.281A>G p.N94S missense 0.00000824●●●●●●
34. 35084411 c.688G>T p.A230S missense 0.00000824●●●●●●
35. 35084769 c.456C>T splice site 0.00000824●●●●●●
36. 35083402 c.903A>C p.L301F missense 0.00000824●●●●●●
37. 35085611 c.289C>T p.R97C missense 0.00000824●●●●●●
38. 35085640 c.260T>G p.I87S missense 0.00000824●●●●●●
39. 35084421 c.678G>T p.E226D missense 0.00000824●●●●●●
40. 35082737 c.1010G>A p.R337H missense 0.00000824●●●●●●
41. 35082662 c.1085A>C p.Q362P missense 0.00000824●●●●●●
42. 35084777 c.455-7C>G splice site 0.00000824●●●●●●
43. 35084773 c.455-3C>G splice site 0.00000824●●●●●●
44. 35083458 c.847A>G p.S283G missense 0.00000824●●●●●●
45. 35084611 c.614C>G p.T205S missense 0.00000824●●●●●●
46. 35085599 c.301G>A p.E101K missense 0.00000824●●●●●●
47. 35084774 c.455-4G>A splice site 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.