MLH1 c.1852_1853delinsTG ;(p.K618W)

Variant ID: 3-37089130-AA-TG

NM_000249.3(MLH1):c.1852_1853delinsTG;(p.K618W)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A comprehensive analysis of candidate genes in familial pancreatic cancer families reveals a high frequency of potentially pathogenic germline variants.

Ebiomedicine
Earl, Julie J; Galindo-Pumariño, Cristina C; Encinas, Jessica J; Barreto, Emma E; Castillo, Maria E ME; Pachón, Vanessa V; Ferreiro, Reyes R; Rodríguez-Garrote, Mercedes M; González-Martínez, Silvia S; Ramon Y Cajal, Teresa T; Diaz, Luis Robles LR; Chirivella-Gonzalez, Isabel I; Rodriguez, Montse M; de Castro, Eva Martínez EM; García-Seisdedos, David D; Muñoz, Gloria G; Rosa, Juan Manuel Rosa JMR; Marquez, Mirari M; Malats, Nuría N; Carrato, Alfredo A
Publication Date: 2020-03

Variant appearance in text: MLH1: Lys618Trp
PubMed Link: 32113160
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page