MLH1 c.3G>T ;(p.M1?)

Variant ID: 3-37035041-G-T

NM_000249.3(MLH1):c.3G>T;(p.M1?)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: MLH1: 3G>T; Met1Ile
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: MLH1: M1I
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Combinatorial approach of in silico and in vitro evaluation of MLH1 variant associated with Lynch syndrome like metastatic colorectal cancer.

Bioscience Reports
Saleem, Komal K; Zaib, Tahir T; Ji, Wei W; Zhang, Chunhui C; Qin, Qian Q; Wang, Yusi Y; Xu, Lidan L; Yu, Hanfei H; Zhu, Siqi S; Dong, Kexian K; Si, Shuhan S; Jia, Xueyuan X; Wu, Jie J; Fu, Songbin S; Sun, Wenjing W
Publication Date: 2020-06-26

Variant appearance in text: MLH1: 3G>T
PubMed Link: 32432717
Variant Present in the following documents:
  • bsr-40-bsr20200225.pdf
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: MLH1: M1I
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



A Novel MLH1 Initiation Codon Mutation (c.3G>T) in a Large Chinese Lynch Syndrome Family with Different Onset Age and mRNA Expression Level.

Biomed Research International
Zhang, Yanni Y; Chen, Huishuang H; Peng, Zhiyu Z; Banerjee, Santasree S; Li, Wei W; Zhao, Zhaolong Z; Sun, Jianbin J; Lv, Jian J; Huang, Hui H; Bai, Ru R; Lin, Keke K; Li, Zhongxin Z
Publication Date: 2018

Variant appearance in text: MLH1: 3G>T
PubMed Link: 30539002
Variant Present in the following documents:
  • Main text
  • BMRI2018-1460835.pdf
View BVdb publication page