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KMT2D c.2490A>C ;(p.E830D)
Variant ID: 12-49444976-T-G
NM_003482.3(
KMT2D
):c.2490A>C;(p.E830D)
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:
Multiscale heterogeneity in gastric adenocarcinoma evolution is an obstacle to precision medicine.
Genome Medicine
Röcken, Christoph C; Amallraja, Anu A; Halske, Christine C; Opasic, Luka L; Traulsen, Arne A; Behrens, Hans-Michael HM; Krüger, Sandra S; Liu, Anne A; Haag, Jochen J; Egberts, Jan-Hendrik JH; Rosenstiel, Philip P; Meißner, Tobias T
Publication Date: 2021-11-08
Variant appearance in text: KMT2D: E830D
PubMed Link:
34749812
Variant Present in the following documents:
13073_2021_975_MOESM2_ESM.xlsx, sheet 16
View BVdb publication page
A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement.
Nature Communications
Zhang, Yiqun Y; Chen, Fengju F; Donehower, Lawrence A LA; Scheurer, Michael E ME; Creighton, Chad J CJ
Publication Date: 2021-02-10
Variant appearance in text: KMT2D: 2490A>C; Glu830Asp
PubMed Link:
33568653
Variant Present in the following documents:
41467_2021_21081_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page