MSH2 c.1135G>C ;(p.D379H)

Variant ID: 2-47656939-G-C

NM_000251.2(MSH2):c.1135G>C;(p.D379H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


SLC26A4 correlates with homologous recombination deficiency and patient prognosis in prostate cancer.

Journal Of Translational Medicine
Luo, Cong C; Liu, Zhi Z; Gan, Yu Y; Gao, Xiaomei X; Zu, Xiongbing X; Zhang, Ye Y; Ye, Wenrui W; Cai, Yi Y
Publication Date: 2022-07-14

Variant appearance in text: MSH2: 1135G>C; D379H
PubMed Link: 35836192
Variant Present in the following documents:
  • 12967_2022_3513_MOESM16_ESM.xlsx, sheet 1
View BVdb publication page



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: 1135G>C; Asp379His
PubMed Link: 34906453
Variant Present in the following documents:
  • mmc1.xlsx, sheet 3
View BVdb publication page