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RYR1 c.3494G>A ;(p.G1165D)
Variant ID: 19-38959718-G-A
NM_000540.2(
RYR1
):c.3494G>A;(p.G1165D)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Correlation of Phenotype-Genotype and Protein Structure in RYR1-Related Myopathy.
Frontiers In Neurology
Chang, Xingzhi X; Wei, Risheng R; Wei, Cuijie C; Liu, Jieyu J; Qin, Lun L; Yan, Hui H; Ma, Yinan Y; Wang, Zhaoxia Z; Xiong, Hui H
Publication Date: 2022
Variant appearance in text: RYR1: 3494G>A
PubMed Link:
35693006
Variant Present in the following documents:
Main text
fneur-13-870285.pdf
View BVdb publication page
Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre.
Bmc Pediatrics
Zhang, Yu Y; Yan, Hui H; Liu, Jieyu J; Yan, Huifang H; Ma, Yinan Y; Wei, Cuijie C; Wang, Zhaoxia Z; Xiong, Hui H; Chang, Xingzhi X
Publication Date: 2022-01-26
Variant appearance in text: RYR1: 3494G>A; Gly1165Asp
PubMed Link:
35081925
Variant Present in the following documents:
Main text
12887_2021_Article_3024.pdf
View BVdb publication page
Structure and Function of the Human Ryanodine Receptors and Their Association with Myopathies-Present State, Challenges, and Perspectives.
Molecules (Basel, Switzerland)
Bauerová-Hlinková, Vladena V; Hajdúchová, Dominika D; Bauer, Jacob A JA
Publication Date: 2020-09-04
Variant appearance in text: RYR1: G1165D
PubMed Link:
32899693
Variant Present in the following documents:
Main text
molecules-25-04040.pdf
View BVdb publication page