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

* 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.