RYR1 c.10511C>T ;(p.S3504F)

Variant ID: 19-39016027-C-T

NM_000540.2(RYR1):c.10511C>T;(p.S3504F)

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:

Differential diagnosis of vacuolar myopathies in the NGS era.

Brain Pathology (Zurich, Switzerland)
Mair, Dorothea D; Biskup, Saskia S; Kress, Wolfram W; Abicht, Angela A; Brück, Wolfgang W; Zechel, Sabrina S; Knop, Karl Christian KC; Koenig, Fatima Barbara FB; Tey, Shelisa S; Nikolin, Stefan S; Eggermann, Katja K; Kurth, Ingo I; Ferbert, Andreas A; Weis, Joachim J
Publication Date: 2020-09

Variant appearance in text: RYR1: 10511C>T; Ser3504Phe
PubMed Link: 32419263
Variant Present in the following documents:
  • Main text
  • BPA-30-877.pdf
View BVdb publication page