NOTCH2 c.4005+45A>C

Variant ID: 1-120469077-T-G

NM_024408.3(NOTCH2):c.4005+45A>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs17258579
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 2
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 2
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 2
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 2
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30

Variant appearance in text: rs17258579
PubMed Link: 31470906
Variant Present in the following documents:
  • 40478_2019_793_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Genome-wide association study identifies novel type II diabetes risk loci in Jordan subpopulations.

Peerj
Dajani, Rana R; Li, Jin J; Wei, Zhi Z; March, Michael E ME; Xia, Qianghua Q; Khader, Yousef Y; Hakooz, Nancy N; Fatahallah, Raja R; El-Khateeb, Mohammed M; Arafat, Ala A; Saleh, Tareq T; Dajani, Abdel Rahman AR; Al-Abbadi, Zaid Z; Abdul Qader, Mohamed M; Shiyab, Abdel Halim AH; Bateiha, Anwar A; Ajlouni, Kamel K; Hakonarson, Hakon H
Publication Date: 2017

Variant appearance in text: rs17258579
PubMed Link: 28828242
Variant Present in the following documents:
  • peerj-05-3618-s001.pdf
View BVdb publication page