CASQ2 truncating variants in ExAC

CASQ2 gene summary
CASQ2 variants in DCM

The table below lists the CASQ2 truncating 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. 116311066 c.97C>T p.R33X nonsense 0.00000824●●●●●●
2. 116244034 c.1028G>A p.Trp343Ter nonsense 0.00001695●●●●●●
3. 116310943 c.220G>T p.Glu74Ter nonsense 0.00000824●●●●●●
4. 116268129 c.783G>A p.W261X nonsense 0.00000825●●●●●●
5. 116269617 c.733C>T p.Q245X nonsense 0.00001822●●●●●●
6. 116280902 c.475G>T p.E159X nonsense 0.00001647●●●●●●
7. 116260460 c.838+1G>A essential splice site 0.00000824●●●●●●
8. 116269612 c.737+1G>A essential splice site 0.00000941●●●●●●
9. 116260516 c.784-1G>A essential splice site 0.00000824●●●●●●
10. 116280843 c.532+2T>C essential splice site 0.00000824●●●●●●
11. 116310927 c.234+2T>C essential splice site 0.00003295●●●●●●
12. 116275582 c.546delT frameshift 0.00004945●●●●●●
13. 116269710 c.640delG p.Val214LeufsTer28 frameshift 0.00000837●●●●●●
14. 116269732 c.618delA p.Lys206AsnfsTer4 frameshift 0.00000844●●●●●●
15. 116275586 c.542_548delCTTTTGA p.Ala181GlufsTer27 frameshift 0.00000824●●●●●●
16. 116275587 c.541delG p.Ala181LeufsTer29 frameshift 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.