MLH1 c.1630C>T ;(p.Q544*)

Variant ID: 3-37081748-C-T

NM_000249.3(MLH1):c.1630C>T;(p.Q544*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-gene Panels: Beyond BRCA1/2.

Cancer Research And Treatment
Eoh, Kyung Jin KJ; Kim, Ji Eun JE; Park, Hyung Seok HS; Lee, Seung-Tae ST; Park, Ji Soo JS; Han, Jung Woo JW; Lee, Jung-Yun JY; Kim, Sunghoon S; Kim, Sang Wun SW; Kim, Jae Hoon JH; Kim, Young Tae YT; Nam, Eun Ji EJ
Publication Date: 2018-07

Variant appearance in text: MLH1: 1630C>T; Gln544Ter
PubMed Link: 29020732
Variant Present in the following documents:
  • crt-2017-220-suppl2.xlsx, sheet 1
View BVdb publication page



Genetic profiles of cervical tumors by high-throughput sequencing for personalized medical care.

Cancer Medicine
Muller, Etienne E; Brault, Baptiste B; Holmes, Allyson A; Legros, Angelina A; Jeannot, Emmanuelle E; Campitelli, Maura M; Rousselin, Antoine A; Goardon, Nicolas N; Frébourg, Thierry T; Krieger, Sophie S; Crouet, Hubert H; Nicolas, Alain A; Sastre, Xavier X; Vaur, Dominique D; Castéra, Laurent L
Publication Date: 2015-10

Variant appearance in text: MLH1: 1630C>T
PubMed Link: 26155992
Variant Present in the following documents:
  • Main text
  • cam40004-1484-sd2.xlsx, sheet 1
View BVdb publication page