KMT2C c.3562C>T ;(p.Q1188*)

Variant ID: 7-151917758-G-A

NM_170606.2(KMT2C):c.3562C>T;(p.Q1188*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Molecular profiling of basal cell carcinomas in young patients.

Bmc Medical Genomics
Abi Karam, Marc M; Kourie, Hampig Raphael HR; Jalkh, Nadine N; Mehawej, Cybel C; Kesrouani, Carole C; Haddad, Fady Gh FG; Feghaly, Iman I; Chouery, Eliane E; Tomb, Roland R
Publication Date: 2021-07-20

Variant appearance in text: KMT2C: 3562C>T; Gln1188*
PubMed Link: 34284772
Variant Present in the following documents:
  • 12920_2021_1030_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



De novo mutations in folate-related genes associated with common developmental disorders.

Computational And Structural Biotechnology Journal
Luo, Tengfei T; Li, Kuokuo K; Ling, Zhengbao Z; Zhao, Guihu G; Li, Bin B; Wang, Zheng Z; Wang, Xiaomeng X; Han, Ying Y; Xia, Lu L; Zhang, Yi Y; Zhou, Qiao Q; Fang, Zhenghuan Z; Wang, Yijing Y; Chen, Qian Q; Zhou, Xun X; Pan, Hongxu H; Zhao, Yuwen Y; Wang, Yige Y; Dong, Lijie L; Huang, Yuanfeng Y; Hu, Zhengmao Z; Pan, Qian Q; Xia, Kun K; Li, Jinchen J
Publication Date: 2021

Variant appearance in text: KMT2C: 3562C>T; Q1188X
PubMed Link: 33777337
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.

Breast Cancer Research : Bcr
Kang, Taekyu T; Yau, Christina C; Wong, Christopher K CK; Sanborn, John Z JZ; Newton, Yulia Y; Vaske, Charlie C; Benz, Stephen C SC; Krings, Gregor G; Camarda, Roman R; Henry, Jill E JE; Stuart, Josh J; Powell, Mark M; Benz, Christopher C CC
Publication Date: 2020-07-31

Variant appearance in text: KMT2C: 3562C>T
PubMed Link: 32736587
Variant Present in the following documents:
  • 13058_2020_1322_MOESM3_ESM.xlsx, sheet 4
  • 13058_2020_1322_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page