MSH2 c.326A>C ;(p.N109T)

Variant ID: 2-47635654-A-C

NM_000251.2(MSH2):c.326A>C;(p.N109T)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,
Publication Date: 2022-03

Variant appearance in text: MSH2: 326A>C; Asn109Thr
PubMed Link: 34906453
Variant Present in the following documents:
  • mmc1.xlsx, sheet 3
View BVdb publication page



Microsatellite Instability and Altered Expressions of MLH1 and MSH2 in Gastric Cancer

Asian Pacific Journal Of Cancer Prevention : Apjcp
Haron, Nor Hasyimah NH; Mohamad Hanif, Ezanee Azlina EA; Abdul Manaf, Mohd Rizal MR; Yaakub, Jasmi Ali JA; Harun, Roslan R; Mohamed, Ramelah R; Mohamed Rose, Isa I
Publication Date: 2019-02-26

Variant appearance in text: MSH2: 326A>C; Asn109Thr
PubMed Link: 30803214
Variant Present in the following documents:
  • Main text
  • APJCP-20-509.pdf
View BVdb publication page