HSP90AA1 inframe variants in ExAC

HSP90AA1 gene summary
HSP90AA1 variants in

The table below lists the HSP90AA1 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. 102551260 c.739_744delAAAGAA p.Lys247_Glu248delinsdel inframe 0.00516750●●●●●●
2. 102551278 c.721_723delAAA p.Lys241del inframe 0.00325662●●●●●●
3. 102551261 c.738_739insAAAGAA p.Lys247_Glu248dup inframe 0.00128297●●●●●●
4. 102551197 c.802_804delGAA p.E268del1 inframe 0.00070857●●●●●●
5. 102551255 c.744_746delAGA p.Glu249del inframe 0.00016962●●●●●●
6. 102551166 c.833_835delAGA p.Lys279del inframe 0.00015913●●●●●●
7. 102551166 c.833_838delAGAAGA p.K278_I280delinsI inframe 0.00015913●●●●●●
8. 102551272 c.727_729delGAA p.Glu244del inframe 0.00015881●●●●●●
9. 102551272 c.727_732delGAAGAA p.Glu243_Glu244del inframe 0.00012352●●●●●●
10. 102551191 c.808_810delAAG p.Lys270del inframe 0.00011304●●●●●●
11. 102551167 c.832_833insAGA p.Lys279dup inframe 0.00005863●●●●●●
12. 102552669 c.47_49dupAGG p.Glu16dup inframe 0.00004946●●●●●●
13. 102552669 c.47_49delAGG p.Glu16del inframe 0.00004121●●●●●●
14. 102551260 c.739_741delAAA p.Lys247del inframe 0.00003596●●●●●●
15. 102551278 c.721_726delAAAGAA p.Lys241_Glu242del inframe 0.00002622●●●●●●
16. 102551166 c.833_838dupAGAAGA p.Lys278_Lys279dup inframe 0.00002513●●●●●●
17. 102548078 c.2170_2172delGAC p.Asp724del inframe 0.00002471●●●●●●
18. 102551204 c.795_797delGGA p.Glu268del inframe 0.00001762●●●●●●
19. 102551317 c.682_684delAAA p.Lys228del inframe 0.00001669●●●●●●
20. 102551275 c.724_738dupGAAGAAGAAAAAGAA p.Glu242_Glu246dup inframe 0.00000895●●●●●●
21. 102551182 c.817_825delGACAAGAAG p.Asp273_Lys275del inframe 0.00000853●●●●●●
22. 102551722 c.576_578delAGA p.Glu192del inframe 0.00000826●●●●●●
23. 102551077 c.922_924delGAG p.Glu308del inframe 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.