MLH1 c.1713del ;(p.F571Lfs*20)

Variant ID: 3-37083800-AT-A

NM_000249.3(MLH1):c.1713del;(p.F571Lfs*20)

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: 1710delT; Phe571Leufs
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp006.xlsx, sheet 1
View BVdb publication page



Mutation spectrum of germline cancer susceptibility genes among unselected Chinese colorectal cancer patients.

Cancer Management And Research
Gong, Rui R; He, Yuan Y; Liu, Xiao-Yun XY; Wang, Hai-Yun HY; Sun, Li-Yue LY; Yang, Xin-Hua XH; Li, Bin B; Cao, Xin-Kai XK; Ye, Zu-Lu ZL; Kong, Ling-Heng LH; Zhang, Da-Dong DD; Li, Yu-Hong YH; Xu, Rui-Hua RH; Shao, Jian-Yong JY
Publication Date: 2019

Variant appearance in text: MLH1: 1713delT; F571Lfs*20
PubMed Link: 31118792
Variant Present in the following documents:
  • Main text
  • cmar-11-3721.pdf
View BVdb publication page



Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.

Hereditary Cancer In Clinical Practice
Henn, Jonas J; Spier, Isabel I; Adam, Ronja S RS; Holzapfel, Stefanie S; Uhlhaas, Siegfried S; Kayser, Katrin K; Plotz, Guido G; Peters, Sophia S; Aretz, Stefan S
Publication Date: 2019

Variant appearance in text: MLH1: 1713delT; Phe571Leufs*20
PubMed Link: 30680046
Variant Present in the following documents:
  • 13053_2018_102_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page