RYR1 c.14524G>A ;(p.V4842M)

Variant ID: 19-39071022-G-A

NM_000540.2(RYR1):c.14524G>A;(p.V4842M)

This variant was identified in 20 publications

View GRCh38 version.




Publications:


A case for genomic medicine in South African paediatric patients with neuromuscular disease.

Frontiers In Pediatrics
Raga, Sharika V SV; Wilmshurst, Jo Madeleine JM; Smuts, Izelle I; Meldau, Surita S; Bardien, Soraya S; Schoonen, Maryke M; van der Westhuizen, Francois Hendrikus FH
Publication Date: 2022

Variant appearance in text: RYR1: Val4842Met; rs193922879
PubMed Link: 36467485
Variant Present in the following documents:
  • Main text
  • fped-10-1033299.pdf
View BVdb publication page



Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms.

Genes
Cotta, Ana A; Souza, Lucas Santos LS; Carvalho, Elmano E; Feitosa, Leticia Nogueira LN; Cunha, Antonio A; Navarro, Monica Machado MM; Valicek, Jaquelin J; Menezes, Miriam Melo MM; Neves, Simone Vilela Nunes SVN; Xavier-Neto, Rafael R; Vargas, Antonio Pedro AP; Takata, Reinaldo Issao RI; Paim, Julia Filardi JF; Vainzof, Mariz M
Publication Date: 2022-04-26

Variant appearance in text: RYR1: 14524G>A
PubMed Link: 35627144
Variant Present in the following documents:
  • genes-13-00760.pdf
View BVdb publication page



Harmonizing variant classification for return of results in the All of Us Research Program.

Human Mutation
Harrison, Steven M SM; Austin-Tse, Christina A CA; Kim, Serra S; Lebo, Matthew M; Leon, Annette A; Murdock, David D; Radhakrishnan, Aparna A; Shirts, Brian H BH; Steeves, Marcie M; Venner, Eric E; Gibbs, Richard A RA; Jarvik, Gail P GP; Rehm, Heidi L HL
Publication Date: 2022-08

Variant appearance in text: RYR1: 14524G>A; Val4842Met
PubMed Link: 34923710
Variant Present in the following documents:
  • HUMU-43-1114-s002.xlsx, sheet 1
View BVdb publication page



Immunogenomics of Colorectal Cancer Response to Checkpoint Blockade: Analysis of the KEYNOTE 177 Trial and Validation Cohorts.

Gastroenterology
Bortolomeazzi, Michele M; Keddar, Mohamed Reda MR; Montorsi, Lucia L; Acha-Sagredo, Amelia A; Benedetti, Lorena L; Temelkovski, Damjan D; Choi, Subin S; Petrov, Nedyalko N; Todd, Katrina K; Wai, Patty P; Kohl, Johannes J; Denner, Tamara T; Nye, Emma E; Goldstone, Robert R; Ward, Sophia S; Wilson, Gareth A GA; Al Bakir, Maise M; Swanton, Charles C; John, Susan S; Miles, James J; Larijani, Banafshe B; Kunene, Victoria V; Fontana, Elisa E; Arkenau, Hendrik-Tobias HT; Parker, Peter J PJ; Rodriguez-Justo, Manuel M; Shiu, Kai-Keen KK; Spencer, Jo J; Ciccarelli, Francesca D FD
Publication Date: 2021-10

Variant appearance in text: RYR1: V4842M
PubMed Link: 34197832
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Publication Date: 2021-09

Variant appearance in text: RYR1: V4842M
PubMed Link: 33483695
Variant Present in the following documents:
  • 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants.

Plos One
Chennen, Kirsley K; Weber, Thomas T; Lornage, Xavière X; Kress, Arnaud A; Böhm, Johann J; Thompson, Julie J; Laporte, Jocelyn J; Poch, Olivier O
Publication Date: 2020

Variant appearance in text: RYR1: 14524G>A; Val4842Met
PubMed Link: 32735577
Variant Present in the following documents:
  • pone.0236962.s019.xlsx, sheet 1
View BVdb publication page



Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications
Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U
Publication Date: 2020-07-20

Variant appearance in text: RYR1: V4842M
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.

Genes
Gonzalez-Quereda, Lidia L; Rodriguez, Maria Jose MJ; Diaz-Manera, Jordi J; Alonso-Perez, Jorge J; Gallardo, Eduard E; Nascimento, Andres A; Ortez, Carlos C; Natera-de Benito, Daniel D; Olive, Montse M; Gonzalez-Mera, Laura L; Munain, Adolfo Lopez de AL; Zulaica, Miren M; Poza, Juan Jose JJ; Jerico, Ivonne I; Torne, Laura L; Riera, Pau P; Milisenda, Jose J; Sanchez, Aurora A; Garrabou, Gloria G; Llano, Isabel I; Madruga-Garrido, Marcos M; Gallano, Pia P
Publication Date: 2020-05-11

Variant appearance in text: RYR1: 14524G>A; Val4842Met
PubMed Link: 32403337
Variant Present in the following documents:
  • genes-11-00539-s001.pdf
View BVdb publication page



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: Val4842Met
PubMed Link: 31559918
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: RYR1: V4842M; rs193922879
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.

Acta Neuropathologica Communications
Garibaldi, Matteo M; Rendu, John J; Brocard, Julie J; Lacene, Emmanuelle E; Fauré, Julien J; Brochier, Guy G; Beuvin, Maud M; Labasse, Clemence C; Madelaine, Angeline A; Malfatti, Edoardo E; Bevilacqua, Jorge Alfredo JA; Lubieniecki, Fabiana F; Monges, Soledad S; Taratuto, Ana Lia AL; Laporte, Jocelyn J; Marty, Isabelle I; Antonini, Giovanni G; Romero, Norma Beatriz NB
Publication Date: 2019-01-05

Variant appearance in text: RYR1: 14524G>A; Val4842Met; rs193922879
PubMed Link: 30611313
Variant Present in the following documents:
  • Main text
  • 40478_2018_655_MOESM1_ESM.xlsx, sheet 2
  • 40478_2018_655_MOESM1_ESM.xlsx, sheet 3
  • 40478_2018_655_MOESM1_ESM.xlsx, sheet 6
  • 40478_2018_655_MOESM1_ESM.xlsx, sheet 7
  • 40478_2018_Article_655.pdf
  • 40478_2018_655_MOESM1_ESM.xlsx, sheet 1
  • 40478_2018_655_MOESM1_ESM.xlsx, sheet 8
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: RYR1: 14524G>A; rs193922879
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Mutational and putative neoantigen load predict clinical benefit of adoptive T cell therapy in melanoma.

Nature Communications
Lauss, Martin M; Donia, Marco M; Harbst, Katja K; Andersen, Rikke R; Mitra, Shamik S; Rosengren, Frida F; Salim, Maryem M; Vallon-Christersson, Johan J; Törngren, Therese T; Kvist, Anders A; Ringnér, Markus M; Svane, Inge Marie IM; Jönsson, Göran G
Publication Date: 2017-11-23

Variant appearance in text: RYR1: 14524G>A; V4842M
PubMed Link: 29170503
Variant Present in the following documents:
  • 41467_2017_1460_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: RYR1: 14524G>A; Val4842Met
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Review of RyR1 pathway and associated pathomechanisms.

Acta Neuropathologica Communications
Witherspoon, Jessica W JW; Meilleur, Katherine G KG
Publication Date: 2016-11-17

Variant appearance in text: RYR1: Val4842Met
PubMed Link: 27855725
Variant Present in the following documents:
  • Main text
  • 40478_2016_Article_392.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: MHS1: V4842M
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: RYR1: V4842M
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution.

Nature
Yan, Zhen Z; Bai, Xiaochen X; Yan, Chuangye C; Wu, Jianping J; Li, Zhangqiang Z; Xie, Tian T; Peng, Wei W; Yin, Changcheng C; Li, Xueming X; Scheres, Sjors H W SHW; Shi, Yigong Y; Yan, Nieng N
Publication Date: 2015-01-01

Variant appearance in text: MHS1: V4842M
PubMed Link: 25517095
Variant Present in the following documents:
  • NIHMS61019-supplement-Supplementary_Table_1.pdf
View BVdb publication page



Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.

Journal Of Medical Genetics
Walsh, Roddy R; Peters, Nicholas S NS; Cook, Stuart A SA; Ware, James S JS
Publication Date: 2014-01

Variant appearance in text: RYR1: V4842M
PubMed Link: 24136861
Variant Present in the following documents:
  • jmedgenet-2013-101917-s1.pdf
View BVdb publication page



Genotype-phenotype correlations in recessive RYR1-related myopathies.

Orphanet Journal Of Rare Diseases
Amburgey, Kimberly K; Bailey, Angela A; Hwang, Jean H JH; Tarnopolsky, Mark A MA; Bonnemann, Carsten G CG; Medne, Livija L; Mathews, Katherine D KD; Collins, James J; Daube, Jasper R JR; Wellman, Gregory P GP; Callaghan, Brian B; Clarke, Nigel F NF; Dowling, James J JJ
Publication Date: 2013-08-06

Variant appearance in text: RYR1: 14524G>A; Val4842Met
PubMed Link: 23919265
Variant Present in the following documents:
  • 1750-1172-8-117-S1.xlsx, sheet 1
  • 1750-1172-8-117-S1.xlsx, sheet 2
View BVdb publication page