NOTCH1 c.2531G>A ;(p.C844Y)

Variant ID: 9-139405660-C-T

NM_017617.3(NOTCH1):c.2531G>A;(p.C844Y)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Breast carcinomas with osteoclast-like giant cells: a comprehensive clinico-pathological and molecular portrait and evidence of RANK-L expression.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Cyrta, Joanna J; Benoist, Camille C; Masliah-Planchon, Julien J; Vieira, Andre F AF; Pierron, Gaëlle G; Fuhrmann, Laetitia L; Richardot, Camille C; Caly, Martial M; Leclere, Renaud R; Mariani, Odette O; Da Maia, Elisabeth E; Larousserie, Frédérique F; Féron, Jean Guillaume JG; Carton, Matthieu M; Renault, Victor V; Bidard, François-Clément FC; Vincent-Salomon, Anne A
Publication Date: 2022-11

Variant appearance in text: NOTCH1: 2531G>A
PubMed Link: 35697931
Variant Present in the following documents:
  • 41379_2022_1112_MOESM2_ESM.xlsx, sheet 5
View BVdb publication page



Comprehensive analysis of genetic factors predicting overall survival in Myelodysplastic syndromes.

Scientific Reports
Maurya, Nehakumari N; Mohanty, Purvi P; Dhangar, Somprakash S; Panchal, Purvi P; Jijina, Farah F; Mathan, S Leo Prince SLP; Shanmukhaiah, Chandrakala C; Madkaikar, Manisha M; Vundinti, Babu Rao BR
Publication Date: 2022-04-08

Variant appearance in text: NOTCH1: 2531G>A
PubMed Link: 35396491
Variant Present in the following documents:
  • 41598_2022_9864_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page



Rare case of chemotherapy-refractory metastatic vaginal squamous cell carcinoma with complete response to concurrent pembrolizumab and radiotherapy- case report and literature review.

Gynecologic Oncology Reports
Ansari, Jawaher J; Eltigani Mohmmed, Yussra Y; Ghazal-Aswad, Saad S; Ansari, Hidayath H; Akhter, Syed M J SMJ; Hassoun Hadid, Omar O; Rizwan, Syed S; Almazrouei, Raya R; Dawoud, Emad E; Azribi, Fathi F; Elhasin, Heba H; Kumar, Pawan P; Al Sumaida, Abdul Rahman AR; Al-Qawasmeh, Khaled K; Glaholm, John J; Hochmair, M J MJ; Hussain, Syed S; Balaraj, Khalid K
Publication Date: 2021-11

Variant appearance in text: NOTCH1: 2531G>A
PubMed Link: 34926759
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Clinically relevant molecular subtypes and genomic alteration-independent differentiation in gynecologic carcinosarcoma.

Nature Communications
Gotoh, Osamu O; Sugiyama, Yuko Y; Takazawa, Yutaka Y; Kato, Kazuyoshi K; Tanaka, Norio N; Omatsu, Kohei K; Takeshima, Nobuhiro N; Nomura, Hidetaka H; Hasegawa, Kosei K; Fujiwara, Keiichi K; Taki, Mana M; Matsumura, Noriomi N; Noda, Tetsuo T; Mori, Seiichi S
Publication Date: 2019-10-31

Variant appearance in text: NOTCH1: C844Y
PubMed Link: 31672974
Variant Present in the following documents:
  • 41467_2019_12985_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page