RYR1 c.11953T>C ;(p.W3985R)

Variant ID: 19-39034456-T-C

NM_000540.2(RYR1):c.11953T>C;(p.W3985R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.

Acta Neuropathologica Communications
Biancalana, Valérie V; Rendu, John J; Chaussenot, Annabelle A; Mecili, Helen H; Bieth, Eric E; Fradin, Mélanie M; Mercier, Sandra S; Michaud, Maud M; Nougues, Marie-Christine MC; Pasquier, Laurent L; Sacconi, Sabrina S; Romero, Norma B NB; Marcorelles, Pascale P; Authier, François Jérôme FJ; Gelot Bernabe, Antoinette A; Uro-Coste, Emmanuelle E; Cances, Claude C; Isidor, Bertrand B; Magot, Armelle A; Minot-Myhie, Marie-Christine MC; Péréon, Yann Y; Perrier-Boeswillwald, Julie J; Bretaudeau, Gilles G; Dondaine, Nicolas N; Bouzenard, Alison A; Pizzimenti, Mégane M; Eymard, Bruno B; Ferreiro, Ana A; Laporte, Jocelyn J; Fauré, Julien J; Böhm, Johann J
Publication Date: 2021-09-17

Variant appearance in text: RYR1: Trp3985Arg
PubMed Link: 34535181
Variant Present in the following documents:
  • Main text
  • 40478_2021_Article_1254.pdf
View BVdb publication page



Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.

Anesthesia And Analgesia
Brandom, Barbara W BW; Bina, Saiid S; Wong, Cynthia A CA; Wallace, Tarina T; Visoiu, Mihaela M; Isackson, Paul J PJ; Vladutiu, Georgirene D GD; Sambuughin, Nyamkhishig N; Muldoon, Sheila M SM
Publication Date: 2013-05

Variant appearance in text: RYR1: Trp3985Arg
PubMed Link: 23558838
Variant Present in the following documents:
  • Main text
View BVdb publication page