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KMT2D c.2374_2427del ;(p.A792_Q809del)
Variant ID: 12-49445038-TCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC-T
NM_003482.3(
KMT2D
):c.2374_2427del;(p.A792_Q809del)
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:
Global molecular alterations involving recurrence or progression of pediatric brain tumors.
Neoplasia (New York, N.Y.)
Chen, Fengju F; Chandrashekar, Darshan S DS; Scheurer, Michael E ME; Varambally, Sooryanarayana S; Creighton, Chad J CJ
Publication Date: 2022-01
Variant appearance in text: KMT2D: A792_Q809del
PubMed Link:
34864569
Variant Present in the following documents:
mmc2.xlsx, sheet 1
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: 2374_2427del; Ala792_Gln809del
PubMed Link:
33568653
Variant Present in the following documents:
41467_2021_21081_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page