KMT2D c.2519_2520insGC ;(p.C841Hfs*90)

Variant ID: 12-49444946-T-TGC

NM_003482.3(KMT2D):c.2519_2520insGC;(p.C841Hfs*90)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrated proteogenomic characterization across major histological types of pituitary neuroendocrine tumors.

Cell Research
Zhang, Fan F; Zhang, Qilin Q; Zhu, Jiajun J; Yao, Boyuan B; Ma, Chi C; Qiao, Nidan N; He, Shiman S; Ye, Zhao Z; Wang, Yunzhi Y; Han, Rui R; Feng, Jinwen J; Wang, Yongfei Y; Qin, Zhaoyu Z; Ma, Zengyi Z; Li, Kai K; Zhang, Yichao Y; Tian, Sha S; Chen, Zhengyuan Z; Tan, Subei S; Wu, Yue Y; Ran, Peng P; Wang, Ye Y; Ding, Chen C; Zhao, Yao Y
Publication Date: 2022-12

Variant appearance in text: KMT2D: 2519_2520insGC; C841fs
PubMed Link: 36307579
Variant Present in the following documents:
  • 41422_2022_736_MOESM10_ESM.xlsx, sheet 3
View BVdb publication page



Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology
Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z
Publication Date: 2021-08

Variant appearance in text: KMT2D: 2519_2520insGC
PubMed Link: 33860439
Variant Present in the following documents:
  • 12035_2021_2377_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page