NOTCH1 c.1555+105C>T

Variant ID: 9-139411619-G-A

NM_017617.3(NOTCH1):c.1555+105C>T

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs11574887
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine
Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z
Publication Date: 2020-05

Variant appearance in text: NOTCH1: 1555+105C>T
PubMed Link: 32277576
Variant Present in the following documents:
  • JCMM-24-4931-s010.xlsx, sheet 1
View BVdb publication page



Transcriptional and metabolic rewiring of colorectal cancer cells expressing the oncogenic KRASG13D mutation.

British Journal Of Cancer
Charitou, Theodosia T; Srihari, Sriganesh S; Lynn, Miriam A MA; Jarboui, Mohamed-Ali MA; Fasterius, Erik E; Moldovan, Max M; Shirasawa, Senji S; Tsunoda, Toshiyuki T; Ueffing, Marius M; Xie, Jianling J; Xin, Jin J; Wang, Xuemin X; Proud, Christopher G CG; Boldt, Karsten K; Al-Khalili Szigyarto, Cristina C; Kolch, Walter W; Lynn, David J DJ
Publication Date: 2019-07

Variant appearance in text: NOTCH1: 1555+105C>T; rs11574887
PubMed Link: 31133691
Variant Present in the following documents:
  • 41416_2019_477_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve.

Bmc Medical Genetics
Foffa, Ilenia I; Ait Alì, Lamia L; Panesi, Paola P; Mariani, Massimiliano M; Festa, Pierluigi P; Botto, Nicoletta N; Vecoli, Cecilia C; Andreassi, Maria Grazia MG
Publication Date: 2013-04-11

Variant appearance in text: rs11574887
PubMed Link: 23578328
Variant Present in the following documents:
  • Main text
  • 1471-2350-14-44.pdf
View BVdb publication page



Genotype-phenotype correlation in patients with bicuspid aortic valve and aneurysm.

The Journal Of Thoracic And Cardiovascular Surgery
Kent, Kathleen C KC; Crenshaw, Melissa L ML; Goh, Denise L M DL; Dietz, Harry C HC
Publication Date: 2013-07

Variant appearance in text: rs11574887
PubMed Link: 23102684
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in healthy oldest-old.

Plos One
Halaschek-Wiener, Julius J; Amirabbasi-Beik, Mahsa M; Monfared, Nasim N; Pieczyk, Markus M; Sailer, Christian C; Kollar, Anita A; Thomas, Ruth R; Agalaridis, Georgios G; Yamada, So S; Oliveira, Lisa L; Collins, Jennifer A JA; Meneilly, Graydon G; Marra, Marco A MA; Madden, Kenneth M KM; Le, Nhu D ND; Connors, Joseph M JM; Brooks-Wilson, Angela R AR
Publication Date: 2009-08-14

Variant appearance in text: rs11574887
PubMed Link: 19680556
Variant Present in the following documents:
  • pone.0006641.s001.xls, sheet 1
View BVdb publication page