KMT2C c.700C>T ;(p.P234S)

Variant ID: 7-152008922-G-A

NM_170606.2(KMT2C):c.700C>T;(p.P234S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants.

Npj Genomic Medicine
Tuncay, Islam Oguz IO; Parmalee, Nancy L NL; Khalil, Raida R; Kaur, Kiran K; Kumar, Ashwani A; Jimale, Mohamed M; Howe, Jennifer L JL; Goodspeed, Kimberly K; Evans, Patricia P; Alzghoul, Loai L; Xing, Chao C; Scherer, Stephen W SW; Chahrour, Maria H MH
Publication Date: 2022-02-21

Variant appearance in text: KMT2C: P234S
PubMed Link: 35190550
Variant Present in the following documents:
  • 41525_2022_Article_284.pdf
View BVdb publication page



A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: KMT2C: P234S
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: MLL3: 700C>T
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page