MFN2 c.816+260C>T

Variant ID: 1-12059412-C-T

NM_014874.3(MFN2):c.816+260C>T

This variant was identified in 5 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: rs2295281
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Hyperplasia suppressor gene polymorphisms and essential hypertension: a case-control association study in a central Han Chinese population.

International Journal Of Clinical And Experimental Pathology
Yan, Shan S; Lian, Xiao-Qing XQ; Wang, Si-Bo SB; Wang, Hao H; Wang, Lian-Sheng LS
Publication Date: 2020

Variant appearance in text: rs2295281
PubMed Link: 32782719
Variant Present in the following documents:
  • Main text
View BVdb publication page



Single Nucleotide Polymorphisms (SNPs) Genotyping Reveals that Mfn2 Polymorphisms are Associated with Thoracic Aortic Dissection in Han Chinese Population.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Han, Jing J; Liu, Jielin J; Zhou, Qi Q; Nie, Shaoping S; Liu, Jinghua J; Wen, Shaojun S
Publication Date: 2019-04-03

Variant appearance in text: rs2295281
PubMed Link: 30940795
Variant Present in the following documents:
  • Main text
  • medscimonit-25-2419.pdf
View BVdb publication page



The Association of Mitofusion-2 Gene Polymorphisms with Susceptibility of Essential Hypertension in Northern Han Chinese Population.

International Journal Of Medical Sciences
Li, Mei M; Zhang, Bei B; Li, Chuang C; Liu, Jielin J; Liu, Ya Y; Sun, Dongdong D; Ma, Hanying H; Wen, Shaojun S
Publication Date: 2016

Variant appearance in text: rs2295281
PubMed Link: 26816493
Variant Present in the following documents:
  • Main text
  • ijmsv13p0039.pdf
View BVdb publication page



Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study.

Bmc Medical Genetics
Wolf, Christiane C; Gramer, Eugen E; Müller-Myhsok, Bertram B; Pasutto, Francesca F; Reinthal, Eva E; Wissinger, Bernd B; Weisschuh, Nicole N
Publication Date: 2009-09-15

Variant appearance in text: rs2295281
PubMed Link: 19754948
Variant Present in the following documents:
  • Main text
  • 1471-2350-10-91.pdf
View BVdb publication page