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RYR1 c.8417G>A ;(p.R2806H)
Variant ID: 19-38996462-G-A
NM_000540.2(
RYR1
):c.8417G>A;(p.R2806H)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: Arg2806His; rs778214809
PubMed Link:
27353517
Variant Present in the following documents:
Main text
srep29088.pdf
View BVdb publication page