NOTCH1 c.7648A>G ;(p.I2550V)

Variant ID: 9-139390543-T-C

NM_017617.3(NOTCH1):c.7648A>G;(p.I2550V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Alterations in homologous recombination repair genes in prostate cancer brain metastases.

Nature Communications
Rodriguez-Calero, Antonio A; Gallon, John J; Akhoundova, Dilara D; Maletti, Sina S; Ferguson, Alison A; Cyrta, Joanna J; Amstutz, Ursula U; Garofoli, Andrea A; Paradiso, Viola V; Tomlins, Scott A SA; Hewer, Ekkehard E; Genitsch, Vera V; Fleischmann, Achim A; Vassella, Erik E; Rushing, Elisabeth J EJ; Grobholz, Rainer R; Fischer, Ingeborg I; Jochum, Wolfram W; Cathomas, Gieri G; Osunkoya, Adeboye O AO; Bubendorf, Lukas L; Moch, Holger H; Thalmann, George G; Ng, Charlotte K Y CKY; Gillessen, Silke S; Piscuoglio, Salvatore S; Rubin, Mark A MA
Publication Date: 2022-05-03

Variant appearance in text: NOTCH1: Ile2550Val; rs188270459
PubMed Link: 35504881
Variant Present in the following documents:
  • 41467_2022_30003_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genomic characterization of chromosome translocations in patients with T/myeloid mixed-phenotype acute leukemia.

Leukemia & Lymphoma
Pallavajjala, Aparna A; Kim, Daehwan D; Li, Tongbin T; Ghiaur, Gabriel G; Jones, Richard J RJ; Burns, Kathleen H KH; Salzberg, Steven L SL; Ning, Yi Y
Publication Date: 2018-05

Variant appearance in text: NOTCH1: I2550V
PubMed Link: 28882084
Variant Present in the following documents:
  • Main text
View BVdb publication page



Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014

Variant appearance in text: NOTCH1: I2550V; rs188270459
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 1
View BVdb publication page