MLH1 c.2224del ;(p.Q742Sfs*41)

Variant ID: 3-37092097-GC-G

NM_000249.3(MLH1):c.2224del;(p.Q742Sfs*41)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: MLH1: 2224delC; Gln742Serfs; rs267607896
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



BRAFV600E immunohistochemistry facilitates universal screening of colorectal cancers for Lynch syndrome.

The American Journal Of Surgical Pathology
Toon, Christopher W CW; Walsh, Michael D MD; Chou, Angela A; Capper, David D; Clarkson, Adele A; Sioson, Loretta L; Clarke, Stephen S; Mead, Scott S; Walters, Rhiannon J RJ; Clendenning, Mark M; Rosty, Christophe C; Young, Joanne P JP; Win, Aung Ko AK; Hopper, John L JL; Crook, Ashley A; von Deimling, Andreas A; Jenkins, Mark A MA; Buchanan, Daniel D DD; Gill, Anthony J AJ
Publication Date: 2013-10

Variant appearance in text: MLH1: 2224delC; Gln742Serfs
PubMed Link: 23797718
Variant Present in the following documents:
  • Main text
View BVdb publication page