RYR1 c.11723A>T ;(p.N3908I)

Variant ID: 19-39034020-A-T

NM_000540.2(RYR1):c.11723A>T;(p.N3908I)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance.

Scientific Reports
Hoppe, Kerstin K; Jurkat-Rott, Karin K; Kranepuhl, Stefanie S; Wearing, Scott S; Heiderich, Sebastian S; Merlak, Sonja S; Klingler, Werner W
Publication Date: 2021-02-09

Variant appearance in text: MHS: N3908I
PubMed Link: 33564012
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_82024.pdf
View BVdb publication page



Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.

Orphanet Journal Of Rare Diseases
Klingler, Werner W; Heiderich, Sebastian S; Girard, Thierry T; Gravino, Elvira E; Heffron, James Ja JJ; Johannsen, Stephan S; Jurkat-Rott, Karin K; Rüffert, Henrik H; Schuster, Frank F; Snoeck, Marc M; Sorrentino, Vincenzo V; Tegazzin, Vincenzo V; Lehmann-Horn, Frank F
Publication Date: 2014-01-16

Variant appearance in text: MHS: 11723A>T
PubMed Link: 24433488
Variant Present in the following documents:
  • Main text
  • 1750-1172-9-8.pdf
View BVdb publication page