EZH1 c.*1709C>T

Variant ID: 17-40852841-G-A

NM_001991.3(EZH1):c.*1709C>T

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Allele-specific expression analysis for complex genetic phenotypes applied to a unique dilated cardiomyopathy cohort.

Scientific Reports
van Beek, Daan D; Verdonschot, Job J; Derks, Kasper K; Brunner, Han H; de Kok, Theo M TM; Arts, Ilja C W ICW; Heymans, Stephane S; Kutmon, Martina M; Adriaens, Michiel M
Publication Date: 2023-01-11

Variant appearance in text: rs9766
PubMed Link: 36631531
Variant Present in the following documents:
  • Main text
  • 41598_2023_Article_27591.pdf
View BVdb publication page



Genetic predisposition to lung adenocarcinoma outcome is a feature already present in patients' noninvolved lung tissue.

Cancer Science
Minnai, Francesca F; Noci, Sara S; Chierici, Marco M; Cotroneo, Chiara Elisabetta CE; Bartolini, Barbara B; Incarbone, Matteo M; Tosi, Davide D; Mattioni, Giovanni G; Jurman, Giuseppe G; Dragani, Tommaso A TA; Colombo, Francesca F
Publication Date: 2022-09-17

Variant appearance in text: rs9766
PubMed Link: 36114746
Variant Present in the following documents:
  • Main text
  • CAS-114-281.pdf
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs9766
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs9766
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Height, body mass index, and socioeconomic status: mendelian randomisation study in UK Biobank.

Bmj (Clinical Research Ed.)
Tyrrell, Jessica J; Jones, Samuel E SE; Beaumont, Robin R; Astley, Christina M CM; Lovell, Rebecca R; Yaghootkar, Hanieh H; Tuke, Marcus M; Ruth, Katherine S KS; Freathy, Rachel M RM; Hirschhorn, Joel N JN; Wood, Andrew R AR; Murray, Anna A; Weedon, Michael N MN; Frayling, Timothy M TM
Publication Date: 2016-03-08

Variant appearance in text: rs9766
PubMed Link: 26956984
Variant Present in the following documents:
  • tyrj029564.ww1_default.pdf
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: rs9766
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page