MLH1 c.2171T>G ;(p.L724W)

Variant ID: 3-37092044-T-G

NM_000249.3(MLH1):c.2171T>G;(p.L724W)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


CanDrA: cancer-specific driver missense mutation annotation with optimized features.

Plos One
Mao, Yong Y; Chen, Han H; Liang, Han H; Meric-Bernstam, Funda F; Mills, Gordon B GB; Chen, Ken K
Publication Date: 2013

Variant appearance in text: MLH1: L724W
PubMed Link: 24205039
Variant Present in the following documents:
  • pone.0077945.s001.xls, sheet 11
View BVdb publication page



De novo constitutional MLH1 epimutations confer early-onset colorectal cancer in two new sporadic Lynch syndrome cases, with derivation of the epimutation on the paternal allele in one.

International Journal Of Cancer
Goel, Ajay A; Nguyen, Thuy-Phuong TP; Leung, Hon-Chiu E HC; Nagasaka, Takeshi T; Rhees, Jennifer J; Hotchkiss, Erin E; Arnold, Mildred M; Banerji, Pia P; Koi, Minoru M; Kwok, Chau-To CT; Packham, Deborah D; Lipton, Lara L; Boland, C Richard CR; Ward, Robyn L RL; Hitchins, Megan P MP
Publication Date: 2011-02-15

Variant appearance in text: MLH1: 2171T>G; L724W
PubMed Link: 20473912
Variant Present in the following documents:
  • Main text
View BVdb publication page