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KMT2D c.4368C>A ;(p.C1456*)
Variant ID: 12-49440442-G-T
NM_003482.3(
KMT2D
):c.4368C>A;(p.C1456*)
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:
Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.
Blood Advances
Bruscaggin, Alessio A; di Bergamo, Lodovico Terzi LT; Spina, Valeria V; Hodkinson, Brendan B; Forestieri, Gabriela G; Bonfiglio, Ferdinando F; Condoluci, Adalgisa A; Wu, Wei W; Pirosa, Maria C MC; Faderl, Martin R MR; Koch, Ricardo R; Schaffer, Michael M; Alvarez, John D JD; Fourneau, Nele N; Gerber, Bernhard B; Stussi, Georg G; Zucca, Emanuele E; Balasubramanian, Sriram S; Rossi, Davide D
Publication Date: 2021-11-23
Variant appearance in text: KMT2D: 4368C>A; C1456*
PubMed Link:
34500472
Variant Present in the following documents:
advancesADV2021004528-suppl2.xlsx, sheet 7
View BVdb publication page
Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.
Blood Advances
Bruscaggin, Alessio A; di Bergamo, Lodovico Terzi LT; Spina, Valeria V; Hodkinson, Brendan B; Forestieri, Gabriela G; Bonfiglio, Ferdinando F; Condoluci, Adalgisa A; Wu, Wei W; Pirosa, Maria C MC; Faderl, Martin R MR; Koch, Ricardo R; Schaffer, Michael M; Alvarez, John D JD; Fourneau, Nele N; Gerber, Bernhard B; Stussi, Georg G; Zucca, Emanuele E; Balasubramanian, Sriram S; Rossi, Davide D
Publication Date: 2021-11-23
Variant appearance in text: KMT2D: 4368C>A; C1456*
PubMed Link:
34500472
Variant Present in the following documents:
advancesADV2021004528-suppl2.xlsx, sheet 7
View BVdb publication page
High-throughput sequencing of nodal marginal zone lymphomas identifies recurrent BRAF mutations.
Leukemia
Pillonel, V V; Juskevicius, D D; Ng, C K Y CKY; Bodmer, A A; Zettl, A A; Jucker, D D; Dirnhofer, S S; Tzankov, A A
Publication Date: 2018-11
Variant appearance in text: KMT2D: 4368C>A; Cys1456Ter
PubMed Link:
29556019
Variant Present in the following documents:
41375_2018_82_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page