MLH1 c.1175A>C ;(p.K392T)

Variant ID: 3-37067264-A-C

NM_000249.3(MLH1):c.1175A>C;(p.K392T)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Next generation sequencing to decipher concurrent loss of PMS2 and MSH6 in colorectal cancer.

Diagnostic Pathology
Moreno, Esther E; Rosa-Rosa, Juan M JM; Caniego-Casas, Tamara T; Ruz-Caracuel, Ignacio I; Perna, Cristian C; Guillén, Carmen C; Palacios, José J
Publication Date: 2020-07-14

Variant appearance in text: MLH1: K392T
PubMed Link: 32664968
Variant Present in the following documents:
  • Main text
  • 13000_2020_Article_1001.pdf
View BVdb publication page



Genomic characterization of pediatric T-cell acute lymphoblastic leukemia reveals novel recurrent driver mutations.

Oncotarget
Spinella, Jean-François JF; Cassart, Pauline P; Richer, Chantal C; Saillour, Virginie V; Ouimet, Manon M; Langlois, Sylvie S; St-Onge, Pascal P; Sontag, Thomas T; Healy, Jasmine J; Minden, Mark D MD; Sinnett, Daniel D
Publication Date: 2016-10-04

Variant appearance in text: MLH1: K392T
PubMed Link: 27602765
Variant Present in the following documents:
  • oncotarget-07-65485-s004.xlsx, sheet 1
View BVdb publication page