ANKRD1 splice variants in ExAC


The table below lists the ANKRD1 splice 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 frequencyPopulations*
1. 92678727 c.348G>A p.T116T splice site 0.01245947
2. 92675647 c.652-10A>T splice site 0.00024556
3. 92675402 c.751-4C>A splice site 0.00006598
4. 92680108 c.28-3T>C splice site 0.00004120
5. 92675924 c.651+4T>A splice site 0.00003315
6. 92680111 c.28-6T>C splice site 0.00003296
7. 92675922 c.651+6C>T splice site 0.00002488
8. 92680754 c.27+4T>A splice site 0.00002478
9. 92678614 c.453+8T>C splice site 0.00002478
10. 92675534 c.750+5G>A splice site 0.00002473
11. 92678622 c.453G>A splice site 0.00001651
12. 92675645 c.652-8T>C splice site 0.00000921
13. 92675294 c.849+6T>C splice site 0.00000837
14. 92677482 c.552+7_552+10delATAT splice site 0.00000830
15. 92675923 c.651+5T>C splice site 0.00000829
16. 92675922 c.651+6C>A splice site 0.00000829
17. 92678616 c.453+6A>T splice site 0.00000826
18. 92675401 c.751-3T>C splice site 0.00000825
19. 92672741 c.850-8T>G splice site 0.00000824
20. 92672731 c.852T>C 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.