ACTC1 protein-altering variants in ExAC


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