MLH1 c.116+680A>G

Variant ID: 3-37035834-A-G

NM_000249.3(MLH1):c.116+680A>G

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs3774343
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



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: 116+680A>G; rs3774343
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp006.xlsx, sheet 1
View BVdb publication page



Single nucleotide polymorphisms in MLH1 predict poor prognosis of hepatocellular carcinoma in a Chinese population.

Oncotarget
Zhu, Xiaonian X; Liu, Wei W; Qiu, Xiaoqiang X; Wang, Zhigang Z; Tan, Chao C; Bei, Chunhua C; Qin, Linyuan L; Ren, Yuan Y; Tan, Shengkui S
Publication Date: 2017-10-03

Variant appearance in text: rs3774343
PubMed Link: 29108386
Variant Present in the following documents:
  • Main text
  • oncotarget-08-80039.pdf
View BVdb publication page



Haplotype defined by the MLH1-93G/A polymorphism is associated with MLH1 promoter hypermethylation in sporadic colorectal cancers.

Bmc Research Notes
Miyakura, Yasuyuki Y; Tahara, Makiko M; Lefor, Alan T AT; Yasuda, Yoshikazu Y; Sugano, Kokichi K
Publication Date: 2014-11-24

Variant appearance in text: rs3774343
PubMed Link: 25421847
Variant Present in the following documents:
  • Main text
  • 13104_2013_Article_3352.pdf
View BVdb publication page