MLH1 c.1959G>A ;(p.L653=)

Variant ID: 3-37090070-G-A

NM_000249.3(MLH1):c.1959G>A;(p.L653=)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Clinical And Translational Gastroenterology
Cowan, Robert W RW; Pratt, Erica D ED; Kang, Jin Muk JM; Zhao, Jun J; Wilhelm, Joshua J JJ; Abdulla, Muhamad M; Qiao, Edmund M EM; Brennan, Luke P LP; Ulintz, Peter J PJ; Bellin, Melena D MD; Rhim, Andrew D AD
Publication Date: 2021-11-18

Variant appearance in text: MLH1: 1959G>A
PubMed Link: 34797250
Variant Present in the following documents:
  • ct9-12-e00431-s005.xlsx, sheet 1
  • ct9-12-e00431-s006.xlsx, sheet 1
View BVdb publication page



A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: MLH1: 1959G>A
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: MLH1: Leu653=
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Mutation profiles of synchronous colorectal cancers from a patient with Lynch syndrome suggest distinct oncogenic pathways.

Journal Of Gastrointestinal Oncology
Wheeler, Scott R SR; Shi, Chanjuan C; Holt, Jonathan A JA; Vnencak-Jones, Cindy L CL
Publication Date: 2016-06

Variant appearance in text: MLH1: 1959G>A
PubMed Link: 27284491
Variant Present in the following documents:
  • Main text
View BVdb publication page