MFN2 c.1160+201C>A

Variant ID: 1-12062361-C-A

NM_014874.3(MFN2):c.1160+201C>A

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.

Scientific Reports
Zhao, Jing J; Zhang, Siqi S; Jiang, Yuan Y; Liu, Yan Y; Wang, Jiantao J; Zhu, QingWen Q
Publication Date: 2022-12-23

Variant appearance in text: rs2236058
PubMed Link: 36564540
Variant Present in the following documents:
  • 41598_2022_26850_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.

Plos One
Lei, Peiliang P; Zhu, Qingwen Q; Dong, Wenrong W; Zhang, Siqi S; Sun, Yanyan Y; Du, Xitong X; Geng, Meng M; Jiang, Yuan Y
Publication Date: 2022

Variant appearance in text: rs2236058
PubMed Link: 36350814
Variant Present in the following documents:
  • pone.0276233.s004.xlsx, sheet 1
View BVdb publication page



A novel splice site variant c.1183ā€‰+ā€‰1 Gā€‰>ā€‰C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.

Bmc Medical Genomics
Li, Qiong Q; Wang, Shujuan S; Liang, Pengfei P; Li, Wei W; Wang, Jian J; Fan, Bei B; Yang, Yang Y; An, Xiaogang X; Chen, Jun J; Zha, Dingjun D
Publication Date: 2022-07-21

Variant appearance in text: rs2236058
PubMed Link: 35864542
Variant Present in the following documents:
  • 12920_2022_1315_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Mitochondrial Dynamics Related Genes -MFN1, MFN2 and DRP1 Polymorphisms are Associated with Risk of Lung Cancer.

Pharmacogenomics And Personalized Medicine
Liang, Xiaohua X; Dang, Shengqiang S
Publication Date: 2021

Variant appearance in text: rs2236058
PubMed Link: 34163214
Variant Present in the following documents:
  • Main text
  • pgpm-14-695.pdf
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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: rs2236058
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: rs2236058
PubMed Link: 30940795
Variant Present in the following documents:
  • Main text
  • medscimonit-25-2419.pdf
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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: rs2236058
PubMed Link: 26816493
Variant Present in the following documents:
  • Main text
  • ijmsv13p0039.pdf
View BVdb publication page



Association of polymorphisms in mitofusin-2 gene with type 2 diabetes in Han Chinese.

Journal Of Biomedicine & Biotechnology
Li, Pengtao P; Zhu, Shuying S; Wu, Xiaopan X; Zhu, Xilin X; Li, Jingyun J; Pan, Liping L; Xin, Zhenhui Z; Niu, Fenghe F; Wu, Jia J; Liu, Ying Y
Publication Date: 2012

Variant appearance in text: rs2236058
PubMed Link: 22778543
Variant Present in the following documents:
  • Main text
  • JBB2012-205752.pdf
View BVdb publication page