ITIH4 truncating variants in ExAC

ITIH4 gene summary
ITIH4 variants in

The table below lists the ITIH4 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. 52858022 c.1172-2A>G essential splice site 0.00006325●●●●●●
2. 52860572 c.615G>A p.W205X nonsense 0.00002475●●●●●●
3. 52863247 c.139C>T p.R47X nonsense 0.00002474●●●●●●
4. 52857631 c.1480dupG p.Ala494GlyfsTer10 frameshift 0.00001702●●●●●●
5. 52848288 c.2563G>T p.E855X nonsense 0.00001677●●●●●●
6. 52855006 c.1679+1G>A essential splice site 0.00001663●●●●●●
7. 52848380 c.2472-1_2472insA p.Leu825ProfsTer15 frameshift 0.00001657●●●●●●
8. 52848385 c.2472-6_2472-2delCCACA essential splice site 0.00001657●●●●●●
9. 52860830 c.496C>T p.Q166X nonsense 0.00001652●●●●●●
10. 52860618 c.569_572delAGAG p.Glu190AlafsTer4 frameshift 0.00001650●●●●●●
11. 52852300 c.2153-1G>T essential splice site 0.00000900●●●●●●
12. 52848075 c.2639delA p.Gln880ArgfsTer18 frameshift 0.00000868●●●●●●
13. 52854803 c.1680-2A>G essential splice site 0.00000852●●●●●●
14. 52850899 c.2471+1G>A essential splice site 0.00000838●●●●●●
15. 52860643 c.544C>T p.Q182X nonsense 0.00000825●●●●●●
16. 52860573 c.614G>A p.W205X nonsense 0.00000825●●●●●●
17. 52855077 c.1609A>T p.K537X nonsense 0.00000824●●●●●●
18. 52853957 c.1911delA p.Glu638ArgfsTer21 frameshift 0.00000824●●●●●●
19. 52850986 c.2385_2386insTTCAC p.Ala796PhefsTer10 frameshift 0.00000824●●●●●●
20. 52863220 c.166C>T p.R56X nonsense 0.00000824●●●●●●
21. 52854007 c.1862-1G>C essential splice site 0.00000824●●●●●●
22. 52851000 c.2371delC p.Leu791TrpfsTer13 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.