EZH2 c.1852-21T>C

Variant ID: 7-148508833-A-G

NM_004456.4(EZH2):c.1852-21T>C

This variant was identified in 14 publications

View GRCh38 version.




Publications:


EZH2: An Accomplice of Gastric Cancer.

Cancers
Yu, Wuhan W; Liu, Ning N; Song, Xiaogang X; Chen, Lang L; Wang, Mancai M; Xiao, Guohui G; Li, Tengfei T; Wang, Zheyuan Z; Zhang, Youcheng Y
Publication Date: 2023-01-09

Variant appearance in text: rs2072407
PubMed Link: 36672374
Variant Present in the following documents:
  • Main text
  • cancers-15-00425.pdf
View BVdb publication page



Mutational Analysis of EZH2 Gene in Patients with Colorectal Adenoma Reveals a Genetic Variant Associated with Risk of Malignant Transformation.

Asian Pacific Journal Of Cancer Prevention : Apjcp
Mahasneh, Amjad A AA; Alnegresh, Faten S FS; Alfaqih, Mahmoud A MA
Publication Date: 2021-12-01

Variant appearance in text: rs2072407
PubMed Link: 34967593
Variant Present in the following documents:
  • Main text
  • APJCP-22-4085.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: EZH2: 1852-21T>C; rs2072407
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs2072407
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: EZH2: 1852-21T>C; rs2072407
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_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: rs2072407
PubMed Link: 31470906
Variant Present in the following documents:
  • 40478_2019_793_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: EZH2: 1852-21T>C; rs2072407
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Effects of four single nucleotide polymorphisms of EZH2 on cancer risk: a systematic review and meta-analysis.

Oncotargets And Therapy
Ling, Zhixin Z; You, Zonghao Z; Hu, Ling L; Zhang, Lei L; Wang, Yiduo Y; Zhang, Minhao M; Zhang, Guangyuan G; Chen, Shuqiu S; Xu, Bin B; Chen, Ming M
Publication Date: 2018

Variant appearance in text: rs2072407
PubMed Link: 29497317
Variant Present in the following documents:
  • Main text
  • ott-11-851.pdf
View BVdb publication page



Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.

Cold Spring Harbor Molecular Case Studies
Suarez-Kelly, Lorena P LP; Akagi, Keiko K; Reeser, Julie W JW; Samorodnitsky, Eric E; Reeder, Matthew M; Smith, Amy A; Roychowdhury, Sameek S; Symer, David E DE; Carson, William E WE
Publication Date: 2018-04

Variant appearance in text: EZH2: 1852-21T>C; rs2072407
PubMed Link: 29449315
Variant Present in the following documents:
  • supp_mcs.a002352_Supplemental_Table_3.xls, sheet 1
View BVdb publication page



Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse.

Molecular Cytogenetics
Smetana, Jan J; Oppelt, Jan J; Štork, Martin M; Pour, Luděk L; Kuglík, Petr P
Publication Date: 2018

Variant appearance in text: EZH2: 1852-21T>C; rs2072407
PubMed Link: 29375670
Variant Present in the following documents:
  • 13039_2018_357_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2072407
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Conditionally reprogrammed normal and primary tumor prostate epithelial cells: a novel patient-derived cell model for studies of human prostate cancer.

Oncotarget
Timofeeva, Olga A OA; Palechor-Ceron, Nancy N; Li, Guanglei G; Yuan, Hang H; Krawczyk, Ewa E; Zhong, Xiaogang X; Liu, Geng G; Upadhyay, Geeta G; Dakic, Aleksandra A; Yu, Songtao S; Fang, Shuang S; Choudhury, Sujata S; Zhang, Xueping X; Ju, Andrew A; Lee, Myeong-Seon MS; Dan, Han C HC; Ji, Youngmi Y; Hou, Yong Y; Zheng, Yun-Ling YL; Albanese, Chris C; Rhim, Johng J; Schlegel, Richard R; Dritschilo, Anatoly A; Liu, Xuefeng X
Publication Date: 2017-04-04

Variant appearance in text: rs2072407
PubMed Link: 28009986
Variant Present in the following documents:
  • oncotarget-08-22741-s003.xlsx, sheet 2
View BVdb publication page



Epigenetic regulation of cancer biology and anti-tumor immunity by EZH2.

Oncotarget
Christofides, Anthos A; Karantanos, Theodoros T; Bardhan, Kankana K; Boussiotis, Vassiliki A VA
Publication Date: 2016-12-20

Variant appearance in text: rs2072407
PubMed Link: 27793053
Variant Present in the following documents:
  • Main text
View BVdb publication page



Perturbed hematopoietic stem and progenitor cell hierarchy in myelodysplastic syndromes patients with monosomy 7 as the sole cytogenetic abnormality.

Oncotarget
Dimitriou, Marios M; Woll, Petter S PS; Mortera-Blanco, Teresa T; Karimi, Mohsen M; Wedge, David C DC; Doolittle, Helen H; Douagi, Iyadh I; Papaemmanuil, Elli E; Jacobsen, Sten Eirik W SE; Hellström-Lindberg, Eva E
Publication Date: 2016-11-08

Variant appearance in text: rs2072407
PubMed Link: 27683035
Variant Present in the following documents:
  • oncotarget-07-72685-s001.pdf
View BVdb publication page