MLH1 c.1163_1164insT ;(p.R389Pfs*6)

Variant ID: 3-37067252-C-CT

NM_000249.3(MLH1):c.1163_1164insT;(p.R389Pfs*6)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Journal Of Medical Genetics
Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM
Publication Date: 2022-07

Variant appearance in text: MLH1: 1163_1164insT; Arg389Profs
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp006.xlsx, sheet 1
View BVdb publication page



Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China.

Hereditary Cancer In Clinical Practice
Zhang, Min M; Chen, Tianhui T
Publication Date: 2021-05-01

Variant appearance in text: MLH1: 1163_1164insT
PubMed Link: 33933134
Variant Present in the following documents:
  • Main text
View BVdb publication page



Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases.

World Journal Of Gastroenterology
Zhang, Jun-Xiao JX; Fu, Lei L; de Voer, Richarda M RM; Hahn, Marc-Manuel MM; Jin, Peng P; Lv, Chen-Xi CX; Verwiel, Eugène Tp ET; Ligtenberg, Marjolijn Jl MJ; Hoogerbrugge, Nicoline N; Kuiper, Roland P RP; Sheng, Jian-Qiu JQ; Geurts van Kessel, Ad A
Publication Date: 2015-04-14

Variant appearance in text: MLH1: 1163_1164insT; Arg389Profs*6
PubMed Link: 25892863
Variant Present in the following documents:
  • Main text
View BVdb publication page