NF1 c.469A>G ;(p.I157V)

Variant ID: 17-29490384-A-G

NM_001042492.2(NF1):c.469A>G;(p.I157V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Multiomics analysis of serial PARP inhibitor treated metastatic TNBC inform on rational combination therapies.

Npj Precision Oncology
Labrie, Marilyne M; Li, Allen A; Creason, Allison A; Betts, Courtney C; Keck, Jamie J; Johnson, Brett B; Sivagnanam, Shamilene S; Boniface, Christopher C; Ma, Hongli H; Blucher, Aurora A; Chang, Young Hwan YH; Chin, Koei K; Vuky, Jacqueline J; Guimaraes, Alexander R AR; Downey, Molly M; Lim, Jeong Youn JY; Gao, Lina L; Siex, Kiara K; Parmar, Swapnil S; Kolodzie, Annette A; Spellman, Paul T PT; Goecks, Jeremy J; Coussens, Lisa M LM; Corless, Christopher L CL; Bergan, Raymond R; Gray, Joe W JW; Mills, Gordon B GB; Mitri, Zahi I ZI
Publication Date: 2021-10-19

Variant appearance in text: NF1: 469A>G
PubMed Link: 34667258
Variant Present in the following documents:
  • 41698_2021_232_MOESM1_ESM.pdf
View BVdb publication page



Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.

Scientific Reports
Jarhelle, Elisabeth E; Riise Stensland, Hilde Monica Frostad HMF; Hansen, Geir Åsmund Myge GÅM; Skarsfjord, Siri S; Jonsrud, Christoffer C; Ingebrigtsen, Monica M; Strømsvik, Nina N; Van Ghelue, Marijke M
Publication Date: 2019-12-27

Variant appearance in text: NF1: 469A>G; Ile157Val
PubMed Link: 31882575
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_55515.pdf
View BVdb publication page