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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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