MSH6 c.484G>A ;(p.G162R)

Variant ID: 2-48023059-G-A

NM_000179.2(MSH6):c.484G>A;(p.G162R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndrome.

Human Genome Variation
Vostrukhina, Olga A OA; Mirlina, Elena D ED; Khmelkova, Darya N DN; Butrovich, Galina M GM; Shakhmatova, Alexandra D AD; Kil, Yury V YV; Polyatskin, Yliya L YL; Artemyeva, Anna S AS; Gulyaev, Alexey V AV; Verbenko, Valery N VN
Publication Date: 2022-10-26

Variant appearance in text: MSH6: 484G>A; Gly162Arg
PubMed Link: 36289196
Variant Present in the following documents:
  • Main text
  • 41439_2022_Article_216.pdf
View BVdb publication page



Impact of Different Selection Approaches for Identifying Lynch Syndrome-Related Colorectal Cancer Patients: Unity Is Strength.

Frontiers In Oncology
Fanale, Daniele D; Corsini, Lidia Rita LR; Brando, Chiara C; Dimino, Alessandra A; Filorizzo, Clarissa C; Magrin, Luigi L; Sciacchitano, Roberta R; Fiorino, Alessia A; Bazan Russo, Tancredi Didier TD; Calò, Valentina V; Iovanna, Juan Lucio JL; Francini, Edoardo E; Russo, Antonio A; Bazan, Viviana V
Publication Date: 2022

Variant appearance in text: MSH6: 484G>A; Gly162Arg
PubMed Link: 35223509
Variant Present in the following documents:
  • fonc-12-827822.pdf
View BVdb publication page