LIPI truncating variants in ExAC

LIPI gene summary
LIPI variants in

The table below lists the LIPI truncating 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. 15579175 c.70dupA p.Arg24LysfsTer15 frameshift 0.00017571●●●●●●
2. 15517023 c.1279C>T p.Q427X nonsense 0.00004136●●●●●●
3. 15538774 c.707-2A>G essential splice site 0.00002486●●●●●●
4. 15537649 c.859delA p.Thr287GlnfsTer46 frameshift 0.00002479●●●●●●
5. 15579134 c.109+2T>A essential splice site 0.00002111●●●●●●
6. 15579138 c.107delC p.Ser36Ter frameshift 0.00001999●●●●●●
7. 15561354 c.495+1G>T essential splice site 0.00000861●●●●●●
8. 15537542 c.964+2T>C essential splice site 0.00000837●●●●●●
9. 15535739 c.1069+1G>C essential splice site 0.00000831●●●●●●
10. 15561724 c.126C>A p.C42X nonsense 0.00000831●●●●●●
11. 15535846 c.965-2A>G essential splice site 0.00000829●●●●●●
12. 15535750 c.1059T>A p.Y353X nonsense 0.00000828●●●●●●
13. 15535750 c.1059T>G p.Y353X nonsense 0.00000828●●●●●●
14. 15538751 c.728T>A p.L243X nonsense 0.00000827●●●●●●
15. 15535797 c.1012_1013delGG p.Gly338LysfsTer4 frameshift 0.00000826●●●●●●
16. 15561591 c.259_262delCTTA p.Leu87MetfsTer20 frameshift 0.00000824●●●●●●
17. 15561543 c.307G>T p.G103X nonsense 0.00000824●●●●●●
18. 15481365 c.1395_1398delCAGA p.Asp465GlufsTer28 frameshift 0.00000824●●●●●●
19. 15481358 c.1402delG p.Glu468LysfsTer26 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.