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KMT2D c.6672_6673insT ;(p.E2225*)
Variant ID: 12-49434880-C-CA
NM_003482.3(
KMT2D
):c.6672_6673insT;(p.E2225*)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genomic profiling of primary histiocytic sarcoma reveals two molecular subgroups.
Haematologica
Egan, Caoimhe C; Nicolae, Alina A; Lack, Justin J; Chung, Hye-Jung HJ; Skarshaug, Shannon S; Pham, Thu Anh TA; Navarro, Winnifred W; Abdullaev, Zied Z; Aguilera, Nadine S NS; Xi, Liqiang L; Pack, Svetlana S; Pittaluga, Stefania S; Jaffe, Elaine S ES; Raffeld, Mark M
Publication Date: 2020-04
Variant appearance in text: KMT2D: E2225fs
PubMed Link:
31439678
Variant Present in the following documents:
Main text
1050951.pdf
View BVdb publication page