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RYR1 c.5125G>C ;(p.G1709R)
Variant ID: 19-38976420-G-C
NM_000540.2(
RYR1
):c.5125G>C;(p.G1709R)
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:
Congenital myasthenic syndromes in 2012.
Current Neurology And Neuroscience Reports
Engel, Andrew G AG
Publication Date: 2012-02
Variant appearance in text: RYR1: G1709R
PubMed Link:
21997714
Variant Present in the following documents:
Main text
View BVdb publication page