NEXN truncating variants in ExAC

NEXN gene summary
NEXN variants in DCM, HCM

The table below lists the NEXN 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. 78399084 c.1171C>T p.R391X nonsense 0.00000855●●●●●●
2. 78395127 c.991G>T p.Glu331Ter nonsense 0.00001668●●●●●●
3. 78392221 c.612C>G p.Y204X nonsense 0.00000830●●●●●●
4. 78392255 c.646C>T p.R216X nonsense 0.00000829●●●●●●
5. 78392512 c.799G>T p.E267X nonsense 0.00000835●●●●●●
6. 78399075 c.1162G>T p.E388X nonsense 0.00000857●●●●●●
7. 78399087 c.1174C>T p.R392X nonsense 0.00000854●●●●●●
8. 78401667 c.1411C>T p.R471X nonsense 0.00002502●●●●●●
9. 78401706 c.1450C>T p.R484X nonsense 0.00000834●●●●●●
10. 78381815 c.24_27+1delTGAGG essential splice site 0.00001047●●●●●●
11. 78383249 c.28-2A>G essential splice site 0.00000850●●●●●●
12. 78383724 c.298+1G>C essential splice site 0.00000829●●●●●●
13. 78392400 c.688-1G>C essential splice site 0.00000830●●●●●●
14. 78392578 c.864+1G>A essential splice site 0.00000841●●●●●●
15. 78395190 c.1053+1G>A essential splice site 0.00001658●●●●●●
16. 78408509 c.2023_2026delAATT p.X676HisfsX9 frameshift 0.00000909●●●●●●
17. 78383387 c.164_167delAAAG p.Arg56GlufsTer34 frameshift 0.00000833●●●●●●
18. 78383409 c.186_187insAG p.Trp67AsnfsTer25 frameshift 0.00000836●●●●●●
19. 78392431 c.718delG p.Glu240AsnfsTer8 frameshift 0.00001660●●●●●●
20. 78392491 c.778_779insA p.Asn261LysfsTer7 frameshift 0.00000833●●●●●●
21. 78401558 c.1302delG p.Ile435SerfsTer3 frameshift 0.00006717●●●●●●
22. 78401603 c.1347_1350delAAGC p.Lys451LeufsTer16 frameshift 0.00000836●●●●●●
23. 78407822 c.1588_1589delAG p.Arg530LysfsTer3 frameshift 0.00000836●●●●●●
24. 78407843 c.1609_1610insA p.Leu537TyrfsTer7 frameshift 0.00000834●●●●●●
25. 78408375 c.1889delA p.Tyr630LeufsTer56 frameshift 0.00000833●●●●●●
26. 78408392 c.1906_1909delACTT p.Tyr637AlafsTer48 frameshift 0.00000833●●●●●●

* 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.