CTF1 variants in ExAC

CTF1 gene summary
CTF1 variants in DCM

The table below lists the CTF1 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 frequency▼Populations*
1. 30907972 c.8G>A p.R3Q missense 0.00011325●●●●●●
2. 30907997 c.25+8G>T splice site 0.00011276●●●●●●
3. 30910730 c.26-6C>T splice site 0.00000824●●●●●●
4. 30910738 c.28G>A p.D10N missense 0.00005767●●●●●●
5. 30910744 c.34C>T p.Q12X nonsense 0.00002472●●●●●●
6. 30910750 c.40G>A p.D14N missense 0.00000824●●●●●●
7. 30910765 c.55C>A p.L19I missense 0.00013183●●●●●●
8. 30910770 c.60_61insC p.His22ProfsTer21 frameshift 0.00000824●●●●●●
9. 30910792 c.82C>T p.R28C missense 0.00001649●●●●●●
10. 30910793 c.83G>A p.R28H missense 0.00015662●●●●●●
11. 30910801 c.91C>G p.H31D missense 0.00000825●●●●●●
12. 30910808 c.98T>C p.L33P missense 0.00000826●●●●●●
13. 30910811 c.101C>T p.A34V missense 0.00001653●●●●●●
14. 30910831 c.121G>T p.A41S missense 0.00007540●●●●●●
15. 30910831 c.121G>A p.A41T missense 0.00000838●●●●●●
16. 30910861 c.144+7G>T splice site 0.00007927●●●●●●
17. 30913412 c.158G>A p.G53E missense 0.00010910●●●●●●
18. 30913697 c.443G>T p.R148L missense 0.01666667●●●●●●
19. 30913718 c.464C>A p.P155H missense 0.00209205●●●●●●
20. 30913850 c.596G>A p.G199D missense 0.00135187●●●●●●

* 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.