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.




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