RYR1 c.7097C>G ;(p.P2366R)

Variant ID: 19-38990344-C-G

NM_000540.2(RYR1):c.7097C>G;(p.P2366R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.

Journal Of Medical Genetics
Laquerriere, Annie A; Jaber, Dana D; Abiusi, Emanuela E; Maluenda, Jérome J; Mejlachowicz, Dan D; Vivanti, Alexandre A; Dieterich, Klaus K; Stoeva, Radka R; Quevarec, Loic L; Nolent, Flora F; Biancalana, Valerie V; Latour, Philippe P; Sternberg, Damien D; Capri, Yline Y; Verloes, Alain A; Bessieres, Bettina B; Loeuillet, Laurence L; Attie-Bitach, Tania T; Martinovic, Jelena J; Blesson, Sophie S; Petit, Florence F; Beneteau, Claire C; Whalen, Sandra S; Marguet, Florent F; Bouligand, Jerome J; Héron, Delphine D; Viot, Géraldine G; Amiel, Jeanne J; Amram, Daniel D; Bellesme, Céline C; Bucourt, Martine M; Faivre, Laurence L; Jouk, Pierre-Simon PS; Khung, Suonavy S; Sigaudy, Sabine S; Delezoide, Anne-Lise AL; Goldenberg, Alice A; Jacquemont, Marie-Line ML; Lambert, Laetitia L; Layet, Valérie V; Lyonnet, Stanislas S; Munnich, Arnold A; Van Maldergem, Lionel L; Piard, Juliette J; Guimiot, Fabien F; Landrieu, Pierre P; Letard, Pascaline P; Pelluard, Fanny F; Perrin, Laurence L; Saint-Frison, Marie-Hélène MH; Topaloglu, Haluk H; Trestard, Laetitia L; Vincent-Delorme, Catherine C; Amthor, Helge H; Barnerias, Christine C; Benachi, Alexandra A; Bieth, Eric E; Boucher, Elise E; Cormier-Daire, Valerie V; Delahaye-Duriez, Andrée A; Desguerre, Isabelle I; Eymard, Bruno B; Francannet, Christine C; Grotto, Sarah S; Lacombe, Didier D; Laffargue, Fanny F; Legendre, Marine M; Martin-Coignard, Dominique D; Mégarbané, André A; Mercier, Sandra S; Nizon, Mathilde M; Rigonnot, Luc L; Prieur, Fabienne F; Quélin, Chloé C; Ranjatoelina-Randrianaivo, Hanitra H; Resta, Nicoletta N; Toutain, Annick A; Verhelst, Helene H; Vincent, Marie M; Colin, Estelle E; Fallet-Bianco, Catherine C; Granier, Michèle M; Grigorescu, Romulus R; Saada, Julien J; Gonzales, Marie M; Guiochon-Mantel, Anne A; Bessereau, Jean-Louis JL; Tawk, Marcel M; Gut, Ivo I; Gitiaux, Cyril C; Melki, Judith J
Publication Date: 2022-06

Variant appearance in text: RYR1: 7097C>G; Pro2366Arg; rs193922806
PubMed Link: 33820833
Variant Present in the following documents:
  • jmedgenet-2020-107595supp001.xlsx, sheet 1
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Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants.

Pharmacogenomics
Sadhasivam, Senthilkumar S; Brandom, Barbara W BW; Henker, Richard A RA; McAuliffe, John J JJ
Publication Date: 2019-09

Variant appearance in text: RYR1: Pro2366Arg
PubMed Link: 31559918
Variant Present in the following documents:
  • Main text
View BVdb publication page