EZH2 c.2195+99T>A

Variant ID: 7-148506064-A-T

NM_004456.4(EZH2):c.2195+99T>A

This variant was identified in 5 publications

View GRCh38 version.




Publications:


A systematic review of common genetic variation and biological pathways in autism spectrum disorder.

Bmc Neuroscience
Rodriguez-Gomez, Diego Alejandro DA; Garcia-Guaqueta, Danna Paola DP; Charry-Sánchez, Jesús David JD; Sarquis-Buitrago, Elias E; Blanco, Mariana M; Velez-van-Meerbeke, Alberto A; Talero-Gutiérrez, Claudia C
Publication Date: 2021-10-09

Variant appearance in text: rs740949
PubMed Link: 34627165
Variant Present in the following documents:
  • 12868_2021_662_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Association between rs2303861 polymorphism in CD82 gene and non-alcoholic fatty liver disease: a preliminary case-control study.

Croatian Medical Journal
Habibzadeh, Parham P; Honarvar, Behnam B; Silawi, Mohammad M; Bahramjahan, Shima S; Kazemi, Azar A; Faghihi, Mohammad Ali MA; Lankarani, Kamran K
Publication Date: 2019-08-31

Variant appearance in text: rs740949
PubMed Link: 31483122
Variant Present in the following documents:
  • Main text
  • CroatMedJ_60_0361.pdf
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: rs740949
PubMed Link: 31470906
Variant Present in the following documents:
  • 40478_2019_793_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Reprogramming identifies functionally distinct stages of clonal evolution in myelodysplastic syndromes.

Blood
Hsu, Jasper J; Reilly, Andreea A; Hayes, Brian J BJ; Clough, Courtnee A CA; Konnick, Eric Q EQ; Torok-Storb, Beverly B; Gulsuner, Suleyman S; Wu, David D; Becker, Pamela S PS; Keel, Siobán B SB; Abkowitz, Janis L JL; Doulatov, Sergei S
Publication Date: 2019-07-11

Variant appearance in text: rs740949
PubMed Link: 31010849
Variant Present in the following documents:
  • Main text
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: rs740949
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page