MYH7 c.1219G>T ;(p.G407C)

Variant ID: 14-23898476-C-A

NM_000257.2(MYH7):c.1219G>T;(p.G407C)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.

Eclinicalmedicine
Chan, Wenxiu W; Yang, Shiwei S; Wang, Jian J; Tong, Shilu S; Lin, Minyin M; Lu, Pengtao P; Yao, Ruen R; Wu, Lanping L; Chen, Lijun L; Guo, Ying Y; Shen, Jie J; Liu, Tingliang T; Li, Fen F; Chen, Huiwen H; Zhang, Hao H; Wang, Shushui S; Fu, Lijun L
Publication Date: 2022-07

Variant appearance in text: MYH7: 1219G>T; Gly407Cys
PubMed Link: 35747179
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Hemorrhagic stroke caused by moyamoya disease in a patient with obstructive hypertrophic cardiomyopathy.

Chinese Medical Journal
Liu, Sheng S; Kang, Yu Y; Zhang, Qing Q; Chen, Yu-Cheng YC
Publication Date: 2021-01-11

Variant appearance in text: MYH7: 1219G>T; G407C
PubMed Link: 33522728
Variant Present in the following documents:
  • cm9-134-368.pdf
View BVdb publication page



Genetic analysis of monoallelic double MYH7 mutations responsible for familial hypertrophic cardiomyopathy.

Molecular Medicine Reports
Wang, Bo B; Wang, Jing J; Wang, Li-Feng LF; Yang, Fan F; Xu, Lei L; Li, Wen-Xia WX; He, Yang Y; Zuo, Lei L; Yang, Qian-Li QL; Shao, Hong H; Hu, Dan D; Liu, Li-Wen LW
Publication Date: 2019-12

Variant appearance in text: MYH7: G407C
PubMed Link: 31638223
Variant Present in the following documents:
  • Main text
  • mmr-20-06-5229.pdf
View BVdb publication page



The Increasing Importance of Gene-Based Analyses.

Plos Genetics
Cirulli, Elizabeth T ET
Publication Date: 2016-04

Variant appearance in text: MYH7: G407C
PubMed Link: 27055023
Variant Present in the following documents:
  • pgen.1005852.s006.xlsx, sheet 2
View BVdb publication page



Possible Biomarkers for the Early Detection of HIV-associated Heart Diseases: A Proteomics and Bioinformatics Prediction.

Computational And Structural Biotechnology Journal
Rasheed, Suraiya S; Hashim, Rahim R; Yan, Jasper S JS
Publication Date: 2015

Variant appearance in text: MYH7: G407C
PubMed Link: 25750702
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequencing identifies a novel MYH7 p.G407C mutation responsible for familial hypertrophic cardiomyopathy.

Dna And Cell Biology
Guo, Qianqian Q; Xu, Yuejuan Y; Wang, Xike X; Guo, Ying Y; Xu, Rang R; Sun, Kun K; Chen, Sun S
Publication Date: 2014-10

Variant appearance in text: MYH7: G407C
PubMed Link: 24963656
Variant Present in the following documents:
  • Main text
View BVdb publication page