bibliography: 'morinlab.bib'
csl: 'NLM.csl'
link-citations: true
Mutations in this gene were first described in DLBCL in 2021 by Hübschmann et al.1
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timeline
title Publication timing
2021-05-05 : Hübschmann : FL
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Entity |
Tier |
Description |
![FL](https://github.com/morinlab/LLMPP/wiki/images/icons/FL_tier2.png) |
2 |
relevance in FL not firmly established[@hubschmannMutationalMechanismsShaping2021b] |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
Entity |
source |
frequency (%) |
FL |
GAMBL genomes |
1.15 |
Mutation pattern and selective pressure estimates
Entity |
aSHM |
Significant selection |
dN/dS (missense) |
dN/dS (nonsense) |
BL |
No |
No |
1.321 |
0 |
DLBCL |
No |
No |
7.648 |
0 |
FL |
No |
No |
8.783 |
0 |
Chromosome |
Coordinate (hg19) |
ref>alt |
HGVSp |
chr3 |
113528218 |
G>A |
D600N |
View coding variants in ProteinPaint hg19 or hg38
![](https://github.com/morinlab/LLMPP/wiki/images/proteinpaint/ATP6V1A_NM_001690.svg)
View all variants in GenomePaint hg19 or hg38
![](https://github.com/morinlab/LLMPP/wiki/images/proteinpaint/ATP6V1A.svg)
![](https://github.com/morinlab/LLMPP/wiki/images/gene_expression/ATP6V1A_by_pathology.svg)
SP59304
SP59444
SP193057
SP194216