MLH1 c.1832T>C ;(p.I611T)

Variant ID: 3-37089110-T-C

NM_000249.3(MLH1):c.1832T>C;(p.I611T)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: MLH1: I611T
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s6.xlsx, sheet 1
View BVdb publication page



Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Hu, Chunling C; Hart, Steven N SN; Bamlet, William R WR; Moore, Raymond M RM; Nandakumar, Kannabiran K; Eckloff, Bruce W BW; Lee, Yean K YK; Petersen, Gloria M GM; McWilliams, Robert R RR; Couch, Fergus J FJ
Publication Date: 2016-01

Variant appearance in text: MLH1: 1832T>C
PubMed Link: 26483394
Variant Present in the following documents:
  • Main text
View BVdb publication page