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RYR1 c.13483C>T ;(p.P4495S)
Variant ID: 19-39057596-C-T
NM_000540.2(
RYR1
):c.13483C>T;(p.P4495S)
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:
Integrative proteogenomic characterization of early esophageal cancer.
Nature Communications
Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-25
Variant appearance in text: rs767437276
PubMed Link:
36966136
Variant Present in the following documents:
41467_2023_37440_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page
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: 13483C>T; Pro4495Ser; rs767437276
PubMed Link:
35181665
Variant Present in the following documents:
41525_2022_283_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page