NOTCH1 c.5101G>T ;(p.A1701S)

Variant ID: 9-139397700-C-A

NM_017617.3(NOTCH1):c.5101G>T;(p.A1701S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: NOTCH1: A1701S; rs1443819558
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Multicenter phase II study of temozolomide and myeloablative chemotherapy with autologous stem cell transplant for newly diagnosed anaplastic oligodendroglioma.

Neuro-Oncology
Thomas, Alissa A AA; Abrey, Lauren E LE; Terziev, Robert R; Raizer, Jeffrey J; Martinez, Nina L NL; Forsyth, Peter P; Paleologos, Nina N; Matasar, Matthew M; Sauter, Craig S CS; Moskowitz, Craig C; Nimer, Stephen D SD; DeAngelis, Lisa M LM; Kaley, Thomas T; Grimm, Sean S; Louis, David N DN; Cairncross, J Gregory JG; Panageas, Katherine S KS; Briggs, Samuel S; Faivre, Geraldine G; Mohile, Nimish A NA; Mehta, Jayesh J; Jonsson, Philip P; Chakravarty, Debyani D; Gao, Jianjiong J; Schultz, Nikolaus N; Brennan, Cameron W CW; Huse, Jason T JT; Omuro, Antonio A
Publication Date: 2017-10-01

Variant appearance in text: NOTCH1: A1701S
PubMed Link: 28472509
Variant Present in the following documents:
  • Main text
View BVdb publication page