RYR1 c.5746G>C ;(p.G1916R)

Variant ID: 19-38980015-G-C

NM_000540.2(RYR1):c.5746G>C;(p.G1916R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.

Signal Transduction And Targeted Therapy
Liu, Fatao F; Li, Yongsheng Y; Ying, Dongjian D; Qiu, Shimei S; He, Yong Y; Li, Maolan M; Liu, Yun Y; Zhang, Yijian Y; Zhu, Qin Q; Hu, Yunping Y; Liu, Liguo L; Li, Guoqiang G; Pan, Weihua W; Jin, Wei W; Mu, Jiasheng J; Cao, Yang Y; Liu, Yingbin Y
Publication Date: 2021-02-10

Variant appearance in text: RYR1: Gly1916Arg
PubMed Link: 33563892
Variant Present in the following documents:
  • 41392_2020_412_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population.

Scientific Reports
Wang, Yan Y; Peng, Wei W; Guo, Hong-Yan HY; Li, Hui H; Tian, Jie J; Shi, Yu-Jing YJ; Yang, Xiao X; Yang, Yao Y; Zhang, Wan-Qiao WQ; Liu, Xin X; Liu, Guan-Nan GN; Deng, Tao T; Sun, Yi-Min YM; Xing, Wan-Li WL; Cheng, Jing J; Feng, Zhi-Chun ZC
Publication Date: 2016-06-29

Variant appearance in text: RYR1: Gly1916Arg; rs746965897
PubMed Link: 27353517
Variant Present in the following documents:
  • Main text
  • srep29088.pdf
View BVdb publication page