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RYR1 c.895G>C ;(p.V299L)
Variant ID: 19-38939089-G-C
NM_000540.2(
RYR1
):c.895G>C;(p.V299L)
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:
Prevalence and types of inconsistencies in clinical pharmacogenetic recommendations among major U.S. sources.
Npj Genomic Medicine
Shugg, Tyler T; Pasternak, Amy L AL; London, Bianca B; Luzum, Jasmine A JA
Publication Date: 2020
Variant appearance in text: RYR1: V299L
PubMed Link:
33145028
Variant Present in the following documents:
41525_2020_156_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page
Treatment options for patients with chronic myeloid leukemia who are resistant to or unable to tolerate imatinib.
Clinical Therapeutics
Stein, Brady B; Smith, B Douglas BD
Publication Date: 2010-05
Variant appearance in text: MHS: V299L
PubMed Link:
20685492
Variant Present in the following documents:
Main text
View BVdb publication page