KMT2C c.9G>A ;(p.S3=)

Variant ID: 7-152132863-C-T

NM_170606.2(KMT2C):c.9G>A;(p.S3=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene
Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S
Publication Date: 2020-04

Variant appearance in text: KMT2C: 9G>A
PubMed Link: 32055024
Variant Present in the following documents:
  • 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.

Plos One
Lal, Dennis D; Reinthaler, Eva M EM; Dejanovic, Borislav B; May, Patrick P; Thiele, Holger H; Lehesjoki, Anna-Elina AE; Schwarz, Günter G; Riesch, Erik E; Ikram, M Arfan MA; van Duijn, Cornelia M CM; Uitterlinden, Andre G AG; Hofman, Albert A; Steinböck, Hannelore H; Gruber-Sedlmayr, Ursula U; Neophytou, Birgit B; Zara, Federico F; Hahn, Andreas A; , ; , ; Gormley, Padhraig P; Becker, Felicitas F; Weber, Yvonne G YG; Cilio, Maria Roberta MR; Kunz, Wolfram S WS; Krause, Roland R; Zimprich, Fritz F; Lemke, Johannes R JR; Nürnberg, Peter P; Sander, Thomas T; Lerche, Holger H; Neubauer, Bernd A BA
Publication Date: 2016

Variant appearance in text: MLL3: S3=
PubMed Link: 26990884
Variant Present in the following documents:
  • pone.0150426.s003.xlsx, sheet 1
View BVdb publication page