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RYR1 c.13547A>G ;(p.E4516G)
Variant ID: 19-39058445-A-G
NM_000540.2(
RYR1
):c.13547A>G;(p.E4516G)
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:
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Npj Genomic Medicine
Lanillos, Javier J; Carcajona, Marta M; Maietta, Paolo P; Alvarez, Sara S; Rodriguez-Antona, Cristina C
Publication Date: 2022-02-18
Variant appearance in text: RYR1: 13547A>G; Glu4516Gly; rs149984626
PubMed Link:
35181665
Variant Present in the following documents:
41525_2022_283_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page
Multi-region sequencing unveils novel actionable targets and spatial heterogeneity in esophageal squamous cell carcinoma.
Nature Communications
Yan, Ting T; Cui, Heyang H; Zhou, Yong Y; Yang, Bin B; Kong, Pengzhou P; Zhang, Yingchun Y; Liu, Yiqian Y; Wang, Bin B; Cheng, Yikun Y; Li, Jiayi J; Guo, Shixing S; Xu, Enwei E; Liu, Huijuan H; Cheng, Caixia C; Zhang, Ling L; Chen, Ling L; Zhuang, Xiaofei X; Qian, Yu Y; Yang, Jian J; Ma, Yanchun Y; Li, Hongyi H; Wang, Fang F; Liu, Jing J; Liu, Xuefeng X; Su, Dan D; Wang, Yan Y; Sun, Ruifang R; Guo, Shiping S; Li, Yaoping Y; Cheng, Xiaolong X; Liu, Zhihua Z; Zhan, Qimin Q; Cui, Yongping Y
Publication Date: 2019-04-11
Variant appearance in text: rs149984626
PubMed Link:
30975989
Variant Present in the following documents:
41467_2019_9255_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page