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. 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. 35086987 c.23C>G p.T8S missense 0.00001676●●●●●●
6. 35086991 c.19A>T p.T7S 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. 35085640 c.260T>G p.I87S missense 0.00000824●●●●●●
14. 35083402 c.903A>C p.L301F missense 0.00000824●●●●●●
15. 35082737 c.1010G>A p.R337H missense 0.00000824●●●●●●
16. 35085599 c.301G>A p.E101K missense 0.00000824●●●●●●
17. 35084421 c.678G>T p.E226D missense 0.00000824●●●●●●
18. 35084689 c.536G>T p.R179L missense 0.00000824●●●●●●
19. 35083458 c.847A>G p.S283G missense 0.00000824●●●●●●
20. 35085632 c.268C>T p.H90Y missense 0.00000824●●●●●●
21. 35084611 c.614C>G p.T205S missense 0.00000824●●●●●●
22. 35084386 c.713T>C p.L238P missense 0.00000824●●●●●●
23. 35085611 c.289C>T p.R97C missense 0.00000824●●●●●●
24. 35085619 c.281A>G p.N94S missense 0.00000824●●●●●●
25. 35082662 c.1085A>C p.Q362P missense 0.00000824●●●●●●
26. 35084411 c.688G>T p.A230S 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.