NEXN inframe variants in ExAC

NEXN gene summary
NEXN variants in DCM, HCM

The table below lists the NEXN inframe 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. 78381796 c.5_7delATG p.N2_D3delinsN inframe 0.00002908●●●●●●
2. 78401672 c.1416_1418delAAG p.A472_R473delinsA inframe 0.00018341●●●●●●
3. 78407806 c.1572_1574delAGA p.R524_E525delinsR inframe 0.00021805●●●●●●
4. 78408431 c.1945_1947delGGA p.G649del1 inframe 0.00013341●●●●●●
5. 78408155 c.1669_1674delGAGGAG p.Glu557_Glu558delinsdel inframe 0.00028527●●●●●●
6. 78392535 c.822_824delAGA p.Glu277del inframe 0.00000836●●●●●●
7. 78395123 c.987_989delAGA p.Glu332del inframe 0.00012529●●●●●●
8. 78399130 c.1217_1219delAAG p.Glu407del inframe 0.00000862●●●●●●
9. 78401657 c.1401_1403delAGA p.Glu470del inframe 0.00014183●●●●●●
10. 78407806 c.1572_1574dupAGA p.Glu525dup inframe 0.00000839●●●●●●
11. 78408155 c.1669_1671delGAG p.Glu560del inframe 0.00001678●●●●●●
12. 78408199 c.1713_1718delTGAAGA p.Asp573_Glu574del inframe 0.00000832●●●●●●
13. 78408239 c.1753_1755delAAG p.Lys585del inframe 0.00001662●●●●●●
14. 78408304 c.1818_1820delAGG p.Gly607del inframe 0.00002494●●●●●●

* 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.