MSH2 c.970C>G ;(p.Q324E)

Variant ID: 2-47643462-C-G

NM_000251.2(MSH2):c.970C>G;(p.Q324E)

This variant was identified in 3 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: 970C>G; Q324E
PubMed Link: 34906453
Variant Present in the following documents:
  • mmc1.xlsx, sheet 3
View BVdb publication page



Metastatic Plasmacytoid Bladder Cancer Harboring a CDH-1 Mutation and Producing High Levels of CA 19-9. A Case Report and Literature Review.

The American Journal Of Case Reports
Telfah, Mohammad M; Parikh, Rahul A RA; Zhang, Da D; Kasi, Anup A
Publication Date: 2020-07-09

Variant appearance in text: MSH2: Q324E
PubMed Link: 32644978
Variant Present in the following documents:
  • Main text
  • amjcaserep-21-e923130.pdf
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: MSH2: Q324E
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page