POLE c.292T>G ;(p.L98V)

Variant ID: 12-133256802-A-C

NM_006231.2(POLE):c.292T>G;(p.L98V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Bmc Medical Genomics
Miller, Eirwen M EM; Patterson, Nicole E NE; Gressel, Gregory M GM; Karabakhtsian, Rouzan G RG; Bejerano-Sagie, Michal M; Ravi, Nivedita N; Maslov, Alexander A; Quispe-Tintaya, Wilber W; Wang, Tao T; Lin, Juan J; Smith, Harriet O HO; Goldberg, Gary L GL; Kuo, Dennis Y S DYS; Montagna, Cristina C
Publication Date: 2020-11-30

Variant appearance in text: POLE: Leu98Val
PubMed Link: 33256706
Variant Present in the following documents:
  • Main text
  • 12920_2020_Article_824.pdf
View BVdb publication page



Spontaneous mutations in the single TTN gene represent high tumor mutation burden.

Npj Genomic Medicine
Oh, Ji-Hye JH; Jang, Se Jin SJ; Kim, Jihun J; Sohn, Insuk I; Lee, Ji-Young JY; Cho, Eun Jeong EJ; Chun, Sung-Min SM; Sung, Chang Ohk CO
Publication Date: 2020

Variant appearance in text: POLE: 292T>G; Leu98Val
PubMed Link: 32821429
Variant Present in the following documents:
  • 41525_2019_107_MOESM1_ESM.pdf
View BVdb publication page