RYR1 c.10219G>A ;(p.A3407T)

Variant ID: 19-39010054-G-A

NM_000540.2(RYR1):c.10219G>A;(p.A3407T)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations.

Journal Of Neurology
Knuiman, G J GJ; Küsters, B B; Eshuis, L L; Snoeck, M M; Lammens, M M; Heytens, L L; De Ridder, W W; Baets, J J; Scalco, R S RS; Quinlivan, R R; Holton, J J; Bodi, I I; Wraige, E E; Radunovic, A A; von Landenberg, C C; Reimann, J J; Kamsteeg, E-J EJ; Sewry, C C; Jungbluth, H H; Voermans, N C NC
Publication Date: 2019-04

Variant appearance in text: RYR1: 10219G>A
PubMed Link: 30788618
Variant Present in the following documents:
  • Main text
  • 415_2019_Article_9209.pdf
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: RYR1: A3407T
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page