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DNMT3A c.1243del ;(p.Q415Sfs*236)
Variant ID: 2-25469524-TG-T
NM_022552.4(
DNMT3A
):c.1243del;(p.Q415Sfs*236)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.
Nature Genetics
Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS
Publication Date: 2022-08
Variant appearance in text: DNMT3A: Q415Sfs*236
PubMed Link:
35835912
Variant Present in the following documents:
41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page
Clonal myelopoiesis promotes adverse outcomes in chronic kidney disease.
Leukemia
Dawoud, Ahmed A Z AAZ; Gilbert, Rodney D RD; Tapper, William J WJ; Cross, Nicholas C P NCP
Publication Date: 2022-02
Variant appearance in text: DNMT3A: 1243delC; Q415Sfs*236
PubMed Link:
34413458
Variant Present in the following documents:
41375_2021_1382_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page