KMT2C c.11594C>G ;(p.S3865*)

Variant ID: 7-151856024-G-C

NM_170606.2(KMT2C):c.11594C>G;(p.S3865*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genomic Landscape of Head and Neck Squamous Cell Carcinoma Across Different Anatomic Sites in Chinese Population.

Frontiers In Genetics
Ju, Yunhe Y; Wu, Xingrao X; Wang, Huizhen H; Li, Bin B; Long, Qing Q; Zhang, Dadong D; Chen, Hao H; Xiao, Nianqing N; Li, Fugen F; Zhang, Shiwen S; Yang, Shenggang S
Publication Date: 2021

Variant appearance in text: KMT2C: S3865X
PubMed Link: 34194478
Variant Present in the following documents:
  • Data_Sheet_1.xlsx, sheet 6
View BVdb publication page



Cell-free DNA captures tumor heterogeneity and driver alterations in rapid autopsies with pre-treated metastatic cancer.

Nature Communications
Pereira, Bernard B; Chen, Christopher T CT; Goyal, Lipika L; Walmsley, Charlotte C; Pinto, Christopher J CJ; Baiev, Islam I; Allen, Read R; Henderson, Laura L; Saha, Supriya S; Reyes, Stephanie S; Taylor, Martin S MS; Fitzgerald, Donna M DM; Broudo, Maida Williams MW; Sahu, Avinash A; Gao, Xin X; Winckler, Wendy W; Brannon, A Rose AR; Engelman, Jeffrey A JA; Leary, Rebecca R; Stone, James R JR; Campbell, Catarina D CD; Juric, Dejan D
Publication Date: 2021-05-27

Variant appearance in text: KMT2C: S3865*
PubMed Link: 34045463
Variant Present in the following documents:
  • 41467_2021_23394_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine
Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS
Publication Date: 2019-12

Variant appearance in text: KMT2C: 11594C>G; S3865*
PubMed Link: 31768066
Variant Present in the following documents:
  • NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 4
View BVdb publication page



An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.

Scientific Reports
Collord, Grace G; Tarpey, Patrick P; Kurbatova, Natalja N; Martincorena, Inigo I; Moran, Sebastian S; Castro, Manuel M; Nagy, Tibor T; Bignell, Graham G; Maura, Francesco F; Young, Matthew D MD; Berna, Jorge J; Tubio, Jose M C JMC; McMurran, Chris E CE; Young, Adam M H AMH; Sanders, Mathijs M; Noorani, Imran I; Price, Stephen J SJ; Watts, Colin C; Leipnitz, Elke E; Kirsch, Matthias M; Schackert, Gabriele G; Pearson, Danita D; Devadass, Abel A; Ram, Zvi Z; Collins, V Peter VP; Allinson, Kieren K; Jenkinson, Michael D MD; Zakaria, Rasheed R; Syed, Khaja K; Hanemann, C Oliver CO; Dunn, Jemma J; McDermott, Michael W MW; Kirollos, Ramez W RW; Vassiliou, George S GS; Esteller, Manel M; Behjati, Sam S; Brazma, Alvis A; Santarius, Thomas T; McDermott, Ultan U
Publication Date: 2018-09-10

Variant appearance in text: MLL3: S3865*
PubMed Link: 30202034
Variant Present in the following documents:
  • 41598_2018_31659_MOESM2_ESM.xlsx, sheet 30
View BVdb publication page