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RYR1 c.10674C>G ;(p.H3558Q)
Variant ID: 19-39017680-C-G
NM_000540.2(
RYR1
):c.10674C>G;(p.H3558Q)
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:
Multi-omics profiling of primary small cell carcinoma of the esophagus reveals RB1 disruption and additional molecular subtypes.
Nature Communications
Li, Renda R; Yang, Zhenlin Z; Shao, Fei F; Cheng, Hong H; Wen, Yaru Y; Sun, Sijin S; Guo, Wei W; Li, Zitong Z; Zhang, Fan F; Xue, Liyan L; Bi, Nan N; Wang, Jie J; Sun, Yingli Y; Li, Yin Y; Tan, Fengwei F; Xue, Qi Q; Gao, Shugeng S; Shi, Susheng S; Gao, Yibo Y; He, Jie J
Publication Date: 2021-06-18
Variant appearance in text: RYR1: 10674C>G; H3558Q
PubMed Link:
34145257
Variant Present in the following documents:
41467_2021_24043_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page