Table of Contents
The variants reported in this gene in BL failed QC
See below or the study page for more information
Overview
This gene encodes the H2A protein, one of the core proteins comprising nucleosomes. Although relatively common in DLBCL, little is known about the function of these mutations.
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence DLBCL gene |
 |
1 | high-confidence FL gene1 |
 |
3 | Retired, Failed QC2 |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
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BL
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FL
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Mutation pattern and selective pressure estimates
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HIST1H2AM Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr6 | 27860660 | T>C | N90D |
| chr6 | 27860658 | G>C | N90K |
| chr6 | 27860652 | C>G | E92D |
| chr6 | 27860652 | C>A | E92D |
| chr6 | 27860649 | C>G | E93D |
| chr6 | 27860648 | G>C | L94V |
| chr6 | 27860648 | G>A | L94F |
| chr6 | 27860644 | T>C | N95S |
| chr6 | 27860643 | G>C | N95K |
| chr6 | 27860640 | C>G | K96N |
| chr6 | 27860640 | C>A | K96N |
| chr6 | 27860639 | G>C | L97V |
| chr6 | 27860636 | G>C | L98V |
| chr6 | 27860636 | G>A | L98F |
| chr6 | 27860633 | C>G | G99R |
| chr6 | 27860632 | C>G | G99A |
| chr6 | 27860627 | C>G | V101L |
| chr6 | 27860627 | C>T | V101I |
| chr6 | 27860627 | C>A | V101F |
| chr6 | 27860624 | T>A | T102S |
| chr6 | 27860623 | G>C | T102S |
| chr6 | 27860623 | G>A | T102I |
| chr6 | 27860560 | C>G | S123T |
| chr6 | 27860559 | G>C | S123R |
| chr6 | 27860549 | C>G | A127P |
| chr6 | 27860548 | G>C | A127G |
| chr6 | 27860548 | G>A | A127V |
| chr6 | 27860542 | C>T | G129D |
| chr6 | 27860538 | C>G | K130N |
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