ATP6V1A - morinlab/LLMPP GitHub Wiki
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
| Entity | Tier | Description |
|---|---|---|
 |
2 | relevance in FL not firmly established[@hubschmannMutationalMechanismsShaping2021b] |
| Entity | source | frequency (%) |
|---|---|---|
| FL | GAMBL genomes | 1.15 |
| 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
View all variants in GenomePaint hg19 or hg38
