LAMA4 truncating variants in ExAC

LAMA4 gene summary
LAMA4 variants in DCM

The table below lists the LAMA4 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. 112575345 c.8dupT p.Leu3PhefsTer33 frameshift 0.00000921●●●●●●
2. 112537605 c.261_262dupTT p.Ser88PhefsTer111 frameshift 0.00001648●●●●●●
3. 112528342 c.302_303delGC p.Cys101SerfsTer10 frameshift 0.00000825●●●●●●
4. 112528305 c.339T>A p.C113X nonsense 0.00000825●●●●●●
5. 112522841 c.471dupT p.Asn158Ter frameshift 0.00000824●●●●●●
6. 112522814 c.498T>A p.C166X nonsense 0.00000824●●●●●●
7. 112522807 c.503+2T>C essential splice site 0.00000824●●●●●●
8. 112513054 c.504-2A>G essential splice site 0.00001832●●●●●●
9. 112510408 c.719-1G>A essential splice site 0.00000834●●●●●●
10. 112508805 c.794-2A>C essential splice site 0.00003578●●●●●●
11. 112506521 c.974_975insA p.Tyr325Ter frameshift 0.00000824●●●●●●
12. 112493907 c.1436C>A p.S479X nonsense 0.00000824●●●●●●
13. 112486436 c.1573_1574delAT p.M525Vfs*20 frameshift 0.00000824●●●●●●
14. 112480034 c.1696C>T p.Q566X nonsense 0.00000825●●●●●●
15. 112476778 c.1927C>T p.R643X nonsense 0.00000824●●●●●●
16. 112469515 c.2176C>T p.Q726X nonsense 0.00000825●●●●●●
17. 112469448 c.2243dupT p.Met748IlefsTer16 frameshift 0.00000824●●●●●●
18. 112469401 c.2290delT p.Ser764LeufsTer8 frameshift 0.00000824●●●●●●
19. 112466073 c.2395C>T p.R799X nonsense 0.00000825●●●●●●
20. 112466034 c.2434C>T p.R812X nonsense 0.00001649●●●●●●
21. 112460955 c.3088C>T p.R1030X nonsense 0.00000824●●●●●●
22. 112460366 c.3217C>T p.R1073X nonsense 0.00000824●●●●●●
23. 112460321 c.3261+1G>T essential splice site 0.00000824●●●●●●
24. 112454554 c.3672_3675delACTT p.Leu1225TyrfsTer63 frameshift 0.00000824●●●●●●
25. 112453954 c.3813+1G>T essential splice site 0.00000839●●●●●●
26. 112452303 c.3814_3817delTCAG p.Ser1272ThrfsTer16 frameshift 0.00000825●●●●●●
27. 112452217 c.3900C>A p.Y1300X nonsense 0.00001651●●●●●●
28. 112451077 c.4112+1G>C essential splice site 0.00002960●●●●●●
29. 112450131 c.4259delA p.N1420Ifs*18 frameshift 0.00000828●●●●●●
30. 112450122 c.4266+2T>G essential splice site 0.00000828●●●●●●
31. 112443321 c.4350C>A p.C1450X nonsense 0.00000824●●●●●●
32. 112441580 c.4550T>A p.L1517X nonsense 0.00000826●●●●●●
33. 112441518 c.4612C>T p.Q1538X nonsense 0.00000826●●●●●●
34. 112440516 c.4645-2A>C essential splice site 0.00000826●●●●●●
35. 112438975 c.4927delT p.Tyr1643ThrfsTer11 frameshift 0.00000824●●●●●●
36. 112438959 c.4943delG p.Gly1648GlufsTer6 frameshift 0.00000824●●●●●●
37. 112437068 c.5089C>T p.Q1697X nonsense 0.00000824●●●●●●
38. 112435865 c.5185+1G>A essential splice site 0.00002478●●●●●●
39. 112430716 c.5375dupA p.Asp1792GlufsTer9 frameshift 0.00000825●●●●●●
40. 112430668 c.5423dupT p.Ser1809LysfsTer11 frameshift 0.00009916●●●●●●

* 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.