MLH1 c.2052T>G ;(p.Y684*)

Variant ID: 3-37090457-T-G

NM_000249.3(MLH1):c.2052T>G;(p.Y684*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Pan-cancer landscape of CD274 (PD-L1) rearrangements in 283,050 patient samples, its correlation with PD-L1 protein expression, and immunotherapy response.

Journal For Immunotherapy Of Cancer
Kelly, Andrew D AD; Murugesan, Karthikeyan K; Kuang, Zheng Z; Montesion, Meagan M; Ross, Jeffrey S JS; Albacker, Lee A LA; Huang, Richard S P RSP; Lin, Douglas I DI; Demirci, Umut U; Creeden, James J
Publication Date: 2021-11

Variant appearance in text: MLH1: Y684*
PubMed Link: 34815356
Variant Present in the following documents:
  • jitc-2021-003550supp001.pdf
View BVdb publication page



Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer.

Oncotarget
Hirasawa, Akira A; Imoto, Issei I; Naruto, Takuya T; Akahane, Tomoko T; Yamagami, Wataru W; Nomura, Hiroyuki H; Masuda, Kiyoshi K; Susumu, Nobuyuki N; Tsuda, Hitoshi H; Aoki, Daisuke D
Publication Date: 2017-12-22

Variant appearance in text: MLH1: 2052T>G
PubMed Link: 29348823
Variant Present in the following documents:
  • Main text
View BVdb publication page