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rdmorin edited this page May 19, 2024 · 29 revisions

[GNA13]

Mutation tier

Entity Tier Description
BL 1 high-confidence BL gene
DLBCL 1 high-confidence DLBCL gene
FL 1 high-confidence FL gene

Mutation incidence

Entity source frequency (%)
BL GAMBL genomes+capture 21.02
BL Thomas cohort 21.60
BL Panea cohort 20.80
DLBCL GAMBL genomes 11.66
DLBCL Schmitz cohort 8.51
DLBCL Reddy cohort 11.91
DLBCL Chapuy cohort 10.26
FL GAMBL genomes 10.16

Mutation pattern

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No Yes 51.517 966.741
DLBCL No Yes 38.484 284.077
FL No Yes 48.688 215.216

Note

First described in BL in 2012 by Love C. First described in DLBCL in 2011 by Morin RD. First described in FL in 2011 by Morin RD

GNA13 Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr17 63052633 G>A Q27*
chr17 63052631 C>G Q27H
chr17 63052630 G>A Q28*
chr17 63052613 C>G E33D
chr17 63052609 C>G D35H

View coding variants in ProteinPaint hg19 or hg38

image

View all variants in GenomePaint hg19 or hg38

image

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