RYR1 c.8290G>A ;(p.E2764K)

Variant ID: 19-38995701-G-A

NM_000540.2(RYR1):c.8290G>A;(p.E2764K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: RYR1: 8290G>A; Glu2764Lys; rs193922829
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Identification of gene mutations in patients with primary periodic paralysis using targeted next-generation sequencing.

Bmc Neurology
Luo, Sushan S; Xu, Minjie M; Sun, Jian J; Qiao, Kai K; Song, Jie J; Cai, Shuang S; Zhu, Wenhua W; Zhou, Lei L; Xi, Jianying J; Lu, Jiahong J; Ni, Xiaohua X; Dou, Tonghai T; Zhao, Chongbo C
Publication Date: 2019-05-08

Variant appearance in text: RYR1: 8290G>A; Glu2764Lys
PubMed Link: 31068157
Variant Present in the following documents:
  • Main text
  • 12883_2019_Article_1322.pdf
View BVdb publication page