MSH6 c.3985T>C ;(p.S1329P)

Variant ID: 2-48033774-T-C

NM_000179.2(MSH6):c.3985T>C;(p.S1329P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A phase I dose-finding, pharmacokinetics and genotyping study of olaparib and lurbinectedin in patients with advanced solid tumors.

Scientific Reports
Poveda, Andres A; Oaknin, Ana A; Romero, Ignacio I; Guerrero-Zotano, Angel A; FariƱas-Madrid, Lorena L; Rodriguez-Freixinos, Victor V; Mallol, Pedro P; Lopez-Reig, Raquel R; Lopez-Guerrero, Jose Antonio JA
Publication Date: 2021-02-24

Variant appearance in text: MSH6: S1329P
PubMed Link: 33627685
Variant Present in the following documents:
  • 41598_2021_82671_MOESM1_ESM.pdf
View BVdb publication page



False-negative errors in next-generation sequencing contribute substantially to inconsistency of mutation databases.

Plos One
Kim, Young-Ho YH; Song, Yura Y; Kim, Jong-Kwang JK; Kim, Tae-Min TM; Sim, Hye Won HW; Kim, Hyung-Lae HL; Jang, Hyonchol H; Kim, Young-Woo YW; Hong, Kyeong-Man KM
Publication Date: 2019

Variant appearance in text: MSH6: 3985T>C; S1329P
PubMed Link: 31513681
Variant Present in the following documents:
  • pone.0222535.s006.xlsx, sheet 1
View BVdb publication page