LTBP2 truncating variants in ExAC

LTBP2 gene summary
LTBP2 variants in

The table below lists the LTBP2 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. 74970225 c.4667_4668insC p.Leu1557AlafsTer22 frameshift 0.00007075●●●●●●
2. 75022332 c.895C>T p.R299X nonsense 0.00003446●●●●●●
3. 74969506 c.5020delG p.Ala1674ProfsTer67 frameshift 0.00002474●●●●●●
4. 74989491 c.2659+2T>C essential splice site 0.00002134●●●●●●
5. 75052795 c.592delC p.Arg198GlyfsTer82 frameshift 0.00001808●●●●●●
6. 75018055 c.1400-2A>C essential splice site 0.00001750●●●●●●
7. 74989492 c.2659+1G>A essential splice site 0.00001060●●●●●●
8. 75078206 c.442_443delCC p.Pro148ThrfsTer77 frameshift 0.00001014●●●●●●
9. 74975306 c.3652+1G>C essential splice site 0.00000984●●●●●●
10. 75017896 c.1557delT p.Gly520AlafsTer37 frameshift 0.00000856●●●●●●
11. 74975346 c.3613_3622dupCCTGGCTTCG p.Val1208AlafsTer41 frameshift 0.00000853●●●●●●
12. 74971879 c.4178-2A>T essential splice site 0.00000842●●●●●●
13. 75017811 c.1642C>T p.R548X nonsense 0.00000841●●●●●●
14. 74974799 c.3653-1G>C essential splice site 0.00000840●●●●●●
15. 74967674 c.5379C>A p.C1793X nonsense 0.00000839●●●●●●
16. 74971831 c.4224_4225insCC p.Thr1409ProfsTer83 frameshift 0.00000834●●●●●●
17. 74975940 c.3403+1G>A essential splice site 0.00000831●●●●●●
18. 74969976 c.4834C>T p.Q1612X nonsense 0.00000831●●●●●●
19. 74976907 c.3038_3039delAG p.Glu1013ValfsTer24 frameshift 0.00000830●●●●●●
20. 74975433 c.3527-1G>C essential splice site 0.00000828●●●●●●
21. 74988620 c.2782delT p.Cys928ValfsTer82 frameshift 0.00000828●●●●●●
22. 74975632 c.3427delC p.Gln1143ArgfsTer35 frameshift 0.00000826●●●●●●
23. 75016599 c.1756delG p.Val586Ter frameshift 0.00000825●●●●●●
24. 74971730 c.4325_4326dupCT p.Ser1443LeufsTer49 frameshift 0.00000825●●●●●●
25. 74969398 c.5128C>T p.Q1710X nonsense 0.00000824●●●●●●
26. 74973967 c.3822G>A p.W1274X nonsense 0.00000824●●●●●●
27. 74999127 c.1987+2_1987+3delTG essential splice site 0.00000824●●●●●●
28. 75070337 c.565+1G>A essential splice site 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.