MSH6 c.1721C>G ;(p.S574*)

Variant ID: 2-48026843-C-G

NM_000179.2(MSH6):c.1721C>G;(p.S574*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Bmc Medicine
Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL
Publication Date: 2021-08-18

Variant appearance in text: MSH6: 1721C>G; Ser574*
PubMed Link: 34404389
Variant Present in the following documents:
  • 12916_2021_1999_MOESM2_ESM.pdf
View BVdb publication page



Multi-region exome sequencing reveals genomic evolution from preneoplasia to lung adenocarcinoma.

Nature Communications
Hu, Xin X; Fujimoto, Junya J; Ying, Lisha L; Fukuoka, Junya J; Ashizawa, Kazuto K; Sun, Wenyong W; Reuben, Alexandre A; Chow, Chi-Wan CW; McGranahan, Nicholas N; Chen, Runzhe R; Hu, Jinlin J; Godoy, Myrna C MC; Tabata, Kazuhiro K; Kuroda, Kishio K; Shi, Lei L; Li, Jun J; Behrens, Carmen C; Parra, Edwin Roger ER; Little, Latasha D LD; Gumbs, Curtis C; Mao, Xizeng X; Song, Xingzhi X; Tippen, Samantha S; Thornton, Rebecca L RL; Kadara, Humam H; Scheet, Paul P; Roarty, Emily E; Ostrin, Edwin Justin EJ; Wang, Xu X; Carter, Brett W BW; Antonoff, Mara B MB; Zhang, Jianhua J; Vaporciyan, Ara A AA; Pass, Harvey H; Swisher, Stephen G SG; Heymach, John V JV; Lee, J Jack JJ; Wistuba, Ignacio I II; Hong, Waun Ki WK; Futreal, P Andrew PA; Su, Dan D; Zhang, Jianjun J
Publication Date: 2019-07-05

Variant appearance in text: MSH6: S574X
PubMed Link: 31278276
Variant Present in the following documents:
  • 41467_2019_10877_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page