DNM2 - morinlab/LLMPP GitHub Wiki
Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.1
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timeline
title Publication timing
2021-05-05 : Hübschmann : DLBCL
| Entity | Tier | Description |
|---|---|---|
 |
2 | relevance in DLBCL not firmly established[@hubschmannMutationalMechanismsShaping2021b] |
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 2.29 |
| DLBCL | Schmitz cohort | 1.70 |
| DLBCL | Reddy cohort | 1.80 |
| DLBCL | Chapuy cohort | 1.28 |
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 1.878 | 7.821 |
| DLBCL | No | No | 4.605 | 0.000 |
| FL | No | No | 10.522 | 0.000 |
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr19 | 10934492 | G>A | E604K |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
SP124975 SP116624 SP59412 SP124969 SP116649 SP124975 SP193130
