ACTC1 protein-altering variants in ExAC

ACTC1 gene summary
ACTC1 variants in DCM, HCM

The table below lists the ACTC1 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. 35087008 c.2T>C p.Met1? missense 0.00000839●●●●●●
2. 35086991 c.19A>T p.T7S missense 0.00001676●●●●●●
3. 35086987 c.23C>G p.T8S missense 0.00001676●●●●●●
4. 35086982 c.28C>A p.L10M missense 0.00002517●●●●●●
5. 35086954 c.56_57insCA p.Lys20ArgfsTer38 frameshift 0.00000843●●●●●●
6. 35086904 c.106A>G p.I36V missense 0.00000871●●●●●●
7. 35085683 c.217A>G p.I73V missense 0.00001648●●●●●●
8. 35085671 c.229A>G p.I77V missense 0.00002471●●●●●●
9. 35085640 c.260T>G p.I87S missense 0.00000824●●●●●●
10. 35085632 c.268C>T p.H90Y missense 0.00000824●●●●●●
11. 35085619 c.281A>G p.N94S missense 0.00000824●●●●●●
12. 35085611 c.289C>T p.R97C missense 0.00000824●●●●●●
13. 35085599 c.301G>A p.E101K missense 0.00000824●●●●●●
14. 35084689 c.536G>T p.R179L missense 0.00000824●●●●●●
15. 35084611 c.614C>G p.T205S missense 0.00000824●●●●●●
16. 35084476 c.623G>A p.R208H missense 0.00004119●●●●●●
17. 35084421 c.678G>T p.E226D missense 0.00000824●●●●●●
18. 35084411 c.688G>T p.A230S missense 0.00000824●●●●●●
19. 35084386 c.713T>C p.L238P missense 0.00000824●●●●●●
20. 35083458 c.847A>G p.S283G missense 0.00000824●●●●●●
21. 35083402 c.903A>C p.L301F missense 0.00000824●●●●●●
22. 35083338 c.967G>A p.A323T missense 0.00001715●●●●●●
23. 35082753 c.994A>G p.I332V missense 0.00001654●●●●●●
24. 35082737 c.1010G>A p.R337H missense 0.00000824●●●●●●
25. 35082662 c.1085A>C p.Q362P missense 0.00000824●●●●●●
26. 0 c.-22-1G>A essential splice site 0.00000842●●●●●●

* 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.