MSH6 c.3587A>T ;(p.E1196V)

Variant ID: 2-48032787-A-T

NM_000179.2(MSH6):c.3587A>T;(p.E1196V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.

Npj Breast Cancer
Hu, Li L; Sun, Jie J; Li, Zhongwu Z; Qu, Ziwei Z; Liu, Yan Y; Wan, Qiting Q; Liu, Jiaming J; Ding, Xinyun X; Zang, Fan F; Zhang, Juan J; Yao, Lu L; Xu, Ye Y; Wang, Yin Y; Xie, Yuntao Y
Publication Date: 2022-04-21

Variant appearance in text: MSH6: 3587A>T; E1196V
PubMed Link: 35449176
Variant Present in the following documents:
  • 41523_2022_417_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Identification of Germline Mutations in Upper Tract Urothelial Carcinoma With Suspected Lynch Syndrome.

Frontiers In Oncology
Guan, Bao B; Wang, Jie J; Li, Xuesong X; Lin, Lin L; Fang, Dong D; Kong, Wenwen W; Tian, Chuangyu C; Li, Juan J; Yang, Kunlin K; Han, Guanpeng G; Wu, Yucai Y; He, Yuhui Y; Peng, Yiji Y; Yu, Yanfei Y; He, Qun Q; He, Shiming S; Gong, Yanqing Y; Zhou, Liqun L; Tang, Qi Q
Publication Date: 2022

Variant appearance in text: MSH6: 3587A>T; Glu1196Val
PubMed Link: 35372080
Variant Present in the following documents:
  • Main text
  • Table_6.xlsx, sheet 1
  • fonc-12-774202.pdf
View BVdb publication page