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RYR1 c.6520G>T ;(p.E2174*)
Variant ID: 19-38985237-G-T
NM_000540.2(
RYR1
):c.6520G>T;(p.E2174*)
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:
Somatic Mutation Profiles Revealed by Next Generation Sequencing (NGS) in 39 Chinese Hepatocellular Carcinoma Patients.
Frontiers In Molecular Biosciences
Ke, Lixin L; Shen, Jianming J; Feng, Jikun J; Chen, Jialin J; Shen, Shunli S; Li, Shaoqiang S; Kuang, Ming M; Liang, Lijian L; Lu, Cuncun C; Li, Dongming D; He, Qiang Q; Peng, Baogang B; Hua, Yunpeng Y
Publication Date: 2021
Variant appearance in text: RYR1: 6520G>T; E2174*
PubMed Link:
35118119
Variant Present in the following documents:
Table3.xlsx, sheet 1
View BVdb publication page