RYR1 c.11798A>G ;(p.Y3933C)

Variant ID: 19-39034191-A-G

NM_000540.2(RYR1):c.11798A>G;(p.Y3933C)

This variant was identified in 36 publications

View GRCh38 version.




Publications:


Pharmacogenomic profile of actionable molecular variants related to drugs commonly used in anesthesia: WES analysis reveals new mutations.

Frontiers In Pharmacology
Parada-Márquez, Juan Fernando JF; Maldonado-Rodriguez, Nicolás David ND; Triana-Fonseca, Paula P; Contreras-Bravo, Nora Constanza NC; Calderón-Ospina, Carlos Alberto CA; Restrepo, Carlos M CM; Morel, Adrien A; Ortega-Recalde, Oscar Javier OJ; Silgado-Guzmán, Daniel Felipe DF; Angulo-Aguado, Mariana M; Fonseca-Mendoza, Dora Janeth DJ
Publication Date: 2023

Variant appearance in text: rs147136339
PubMed Link: 37021041
Variant Present in the following documents:
  • Table2.xlsx, sheet 1
View BVdb publication page



Alterations in homologous recombination repair genes in prostate cancer brain metastases.

Nature Communications
Rodriguez-Calero, Antonio A; Gallon, John J; Akhoundova, Dilara D; Maletti, Sina S; Ferguson, Alison A; Cyrta, Joanna J; Amstutz, Ursula U; Garofoli, Andrea A; Paradiso, Viola V; Tomlins, Scott A SA; Hewer, Ekkehard E; Genitsch, Vera V; Fleischmann, Achim A; Vassella, Erik E; Rushing, Elisabeth J EJ; Grobholz, Rainer R; Fischer, Ingeborg I; Jochum, Wolfram W; Cathomas, Gieri G; Osunkoya, Adeboye O AO; Bubendorf, Lukas L; Moch, Holger H; Thalmann, George G; Ng, Charlotte K Y CKY; Gillessen, Silke S; Piscuoglio, Salvatore S; Rubin, Mark A MA
Publication Date: 2022-05-03

Variant appearance in text: RYR1: Tyr3933Cys; rs147136339
PubMed Link: 35504881
Variant Present in the following documents:
  • 41467_2022_30003_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.

Acta Neuropathologica Communications
Fusto, Aurora A; Cassandrini, Denise D; Fiorillo, Chiara C; Codemo, Valentina V; Astrea, Guja G; D'Amico, Adele A; Maggi, Lorenzo L; Magri, Francesca F; Pane, Marika M; Tasca, Giorgio G; Sabbatini, Daniele D; Bello, Luca L; Battini, Roberta R; Bernasconi, Pia P; Fattori, Fabiana F; Bertini, Enrico Silvio ES; Comi, Giacomo G; Messina, Sonia S; Mongini, Tiziana T; Moroni, Isabella I; Panicucci, Chiara C; Berardinelli, Angela A; Donati, Alice A; Nigro, Vincenzo V; Pini, Antonella A; Giannotta, Melania M; Dosi, Claudia C; Ricci, Enzo E; Mercuri, Eugenio E; Minervini, Giovanni G; Tosatto, Silvio S; Santorelli, Filippo F; Bruno, Claudio C; Pegoraro, Elena E
Publication Date: 2022-04-15

Variant appearance in text: RYR1: 11798A>G; Tyr3933Cys
PubMed Link: 35428369
Variant Present in the following documents:
  • Main text
  • 40478_2022_Article_1357.pdf
View BVdb publication page



Integrated molecular profiling of patient-derived ovarian cancer models identifies clinically relevant signatures and tumor vulnerabilities.

International Journal Of Cancer
Lupia, Michela M; Melocchi, Valentina V; Bizzaro, Francesca F; Lo Riso, Pietro P; Dama, Elisa E; Baronio, Micol M; Ranghiero, Alberto A; Barberis, Massimo M; Bernard, Loris L; Bertalot, Giovanni G; Giavazzi, Raffaella R; Testa, Giuseppe G; Bianchi, Fabrizio F; Cavallaro, Ugo U
Publication Date: 2022-07-15

Variant appearance in text: RYR1: Tyr3933Cys; rs147136339
PubMed Link: 35218560
Variant Present in the following documents:
  • IJC-151-240-s001.xlsx, sheet 7
View BVdb publication page



A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy.

Journal Of Personalized Medicine
Michelini, Sandro S; Herbst, Karen L KL; Precone, Vincenza V; Manara, Elena E; Marceddu, Giuseppe G; Dautaj, Astrit A; Maltese, Paolo Enrico PE; Paolacci, Stefano S; Ceccarini, Maria Rachele MR; Beccari, Tommaso T; Sorrentino, Elisa E; Aquilanti, Barbara B; Velluti, Valeria V; Matera, Giuseppina G; Gagliardi, Lucilla L; Miggiano, Giacinto Abele Donato GAD; Bertelli, Matteo M
Publication Date: 2022-02-11

Variant appearance in text: RYR1: 11798A>G; Tyr3933Cys; rs147136339
PubMed Link: 35207755
Variant Present in the following documents:
  • jpm-12-00268.pdf
View BVdb publication page



Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Npj Genomic Medicine
Lanillos, Javier J; Carcajona, Marta M; Maietta, Paolo P; Alvarez, Sara S; Rodriguez-Antona, Cristina C
Publication Date: 2022-02-18

Variant appearance in text: RYR1: 11798A>G; Tyr3933Cys; rs147136339
PubMed Link: 35181665
Variant Present in the following documents:
  • 41525_2022_283_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: RYR1: Y3933C; rs147136339
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database.

European Journal Of Human Genetics : Ejhg
Fridriksdottir, Run R; Jonsson, Arnar J AJ; Jensson, Brynjar O BO; Sverrisson, Kristinn O KO; Arnadottir, Gudny A GA; Skarphedinsdottir, Sigurbjorg J SJ; Katrinardottir, Hildigunnur H; Snaebjornsdottir, Steinunn S; Jonsson, Hakon H; Eiriksson, Ogmundur O; Oskarsson, Gudjon R GR; Oddsson, Asmundur A; Jonasdottir, Adalbjorg A; Jonasdottir, Aslaug A; Sigurdsson, Gisli H GH; Indridason, Einar P EP; Sigurdsson, Stefan B SB; Bjornsdottir, Gyda G; Saemundsdottir, Jona J; Magnusson, Olafur T OT; Bjornsson, Hans T HT; Thorsteinsdottir, Unnur U; Sigurdsson, Theodor S TS; Sulem, Patrick P; Sigurdsson, Martin I MI; Stefansson, Kari K
Publication Date: 2021-12

Variant appearance in text: RYR1: 11798A>G; Tyr3933Cys
PubMed Link: 34462577
Variant Present in the following documents:
  • 41431_2021_954_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database.

European Journal Of Human Genetics : Ejhg
Fridriksdottir, Run R; Jonsson, Arnar J AJ; Jensson, Brynjar O BO; Sverrisson, Kristinn O KO; Arnadottir, Gudny A GA; Skarphedinsdottir, Sigurbjorg J SJ; Katrinardottir, Hildigunnur H; Snaebjornsdottir, Steinunn S; Jonsson, Hakon H; Eiriksson, Ogmundur O; Oskarsson, Gudjon R GR; Oddsson, Asmundur A; Jonasdottir, Adalbjorg A; Jonasdottir, Aslaug A; Sigurdsson, Gisli H GH; Indridason, Einar P EP; Sigurdsson, Stefan B SB; Bjornsdottir, Gyda G; Saemundsdottir, Jona J; Magnusson, Olafur T OT; Bjornsson, Hans T HT; Thorsteinsdottir, Unnur U; Sigurdsson, Theodor S TS; Sulem, Patrick P; Sigurdsson, Martin I MI; Stefansson, Kari K
Publication Date: 2021-12

Variant appearance in text: RYR1: 11798A>G; Tyr3933Cys
PubMed Link: 34462577
Variant Present in the following documents:
  • 41431_2021_954_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Johnston, Jennifer J JJ; Dirksen, Robert T RT; Girard, Thierry T; Gonsalves, Stephen G SG; Hopkins, Philip M PM; Riazi, Sheila S; Saddic, Louis A LA; Sambuughin, Nyamkhishig N; Saxena, Richa R; Stowell, Kathryn K; Weber, James J; Rosenberg, Henry H; Biesecker, Leslie G LG
Publication Date: 2021-07

Variant appearance in text: RYR1: 11798A>G; Tyr3933Cys
PubMed Link: 33767344
Variant Present in the following documents:
  • NIHMS1689967-supplement-Large_Excel_File.xls, sheet 5
View BVdb publication page



Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Genome Medicine
Stranneheim, Henrik H; Lagerstedt-Robinson, Kristina K; Magnusson, Måns M; Kvarnung, Malin M; Nilsson, Daniel D; Lesko, Nicole N; Engvall, Martin M; Anderlid, Britt-Marie BM; Arnell, Henrik H; Johansson, Carolina Backman CB; Barbaro, Michela M; Björck, Erik E; Bruhn, Helene H; Eisfeldt, Jesper J; Freyer, Christoph C; Grigelioniene, Giedre G; Gustavsson, Peter P; Hammarsjö, Anna A; Hellström-Pigg, Maritta M; Iwarsson, Erik E; Jemt, Anders A; Laaksonen, Mikael M; Enoksson, Sara Lind SL; Malmgren, Helena H; Naess, Karin K; Nordenskjöld, Magnus M; Oscarson, Mikael M; Pettersson, Maria M; Rasi, Chiara C; Rosenbaum, Adam A; Sahlin, Ellika E; Sardh, Eliane E; Stödberg, Tommy T; Tesi, Bianca B; Tham, Emma E; Thonberg, Håkan H; Töhönen, Virpi V; von Döbeln, Ulrika U; Vassiliou, Daphne D; Vonlanthen, Sofie S; Wikström, Ann-Charlotte AC; Wincent, Josephine J; Winqvist, Ola O; Wredenberg, Anna A; Ygberg, Sofia S; Zetterström, Rolf H RH; Marits, Per P; Soller, Maria Johansson MJ; Nordgren, Ann A; Wirta, Valtteri V; Lindstrand, Anna A; Wedell, Anna A
Publication Date: 2021-03-17

Variant appearance in text: RYR1: 11798A>G
PubMed Link: 33726816
Variant Present in the following documents:
  • 13073_2021_855_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI.

Journal Of Neuromuscular Diseases
Lawal, Tokunbor A TA; Patankar, Aneesh A; Todd, Joshua J JJ; Razaqyar, Muslima S MS; Chrismer, Irene C IC; Zhang, Xuemin X; Waite, Melissa R MR; Jain, Minal S MS; Emile-Backer, Magalie M; Witherspoon, Jessica W JW; Liu, Chia-Ying CY; Grunseich, Christopher C; Meilleur, Katherine G KG
Publication Date: 2021

Variant appearance in text: RYR1: 11798A>G; Tyr3933Cys
PubMed Link: 33646171
Variant Present in the following documents:
  • Main text
  • jnd-8-jnd200549.pdf
View BVdb publication page



In vivo RyR1 reduction in muscle triggers a core-like myopathy.

Acta Neuropathologica Communications
Pelletier, Laurent L; Petiot, Anne A; Brocard, Julie J; Giannesini, Benoit B; Giovannini, Diane D; Sanchez, Colline C; Travard, Lauriane L; Chivet, Mathilde M; Beaufils, Mathilde M; Kutchukian, Candice C; Bendahan, David D; Metzger, Daniel D; Franzini Armstrong, Clara C; Romero, Norma B NB; Rendu, John J; Jacquemond, Vincent V; Fauré, Julien J; Marty, Isabelle I
Publication Date: 2020-11-11

Variant appearance in text: RYR1: Tyr3933Cys
PubMed Link: 33176865
Variant Present in the following documents:
  • Main text
  • 40478_2020_Article_1068.pdf
View BVdb publication page



Pan-neuroblastoma analysis reveals age- and signature-associated driver alterations.

Nature Communications
Brady, Samuel W SW; Liu, Yanling Y; Ma, Xiaotu X; Gout, Alexander M AM; Hagiwara, Kohei K; Zhou, Xin X; Wang, Jian J; Macias, Michael M; Chen, Xiaolong X; Easton, John J; Mulder, Heather L HL; Rusch, Michael M; Wang, Lu L; Nakitandwe, Joy J; Lei, Shaohua S; Davis, Eric M EM; Naranjo, Arlene A; Cheng, Cheng C; Maris, John M JM; Downing, James R JR; Cheung, Nai-Kong V NV; Hogarty, Michael D MD; Dyer, Michael A MA; Zhang, Jinghui J
Publication Date: 2020-10-14

Variant appearance in text: RYR1: Y3933C
PubMed Link: 33056981
Variant Present in the following documents:
  • 41467_2020_18987_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Töpf, Ana A; Johnson, Katherine K; Bates, Adam A; Phillips, Lauren L; Chao, Katherine R KR; England, Eleina M EM; Laricchia, Kristen M KM; Mullen, Thomas T; Valkanas, Elise E; Xu, Liwen L; Bertoli, Marta M; Blain, Alison A; Casasús, Ana B AB; Duff, Jennifer J; Mroczek, Magdalena M; Specht, Sabine S; Lek, Monkol M; Ensini, Monica M; MacArthur, Daniel G DG; , ; Straub, Volker V
Publication Date: 2020-09

Variant appearance in text: RYR1: 11798A>G; Y3933C
PubMed Link: 32528171
Variant Present in the following documents:
  • 41436_2020_840_MOESM10_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: 11798A>G; Tyr3933Cys
PubMed Link: 32403337
Variant Present in the following documents:
  • genes-11-00539-s001.pdf
View BVdb publication page



Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.

Acta Neuropathologica
Kushnir, Alexander A; Todd, Joshua J JJ; Witherspoon, Jessica W JW; Yuan, Qi Q; Reiken, Steven S; Lin, Harvey H; Munce, Ross H RH; Wajsberg, Benjamin B; Melville, Zephan Z; Clarke, Oliver B OB; Wedderburn-Pugh, Kaylee K; Wronska, Anetta A; Razaqyar, Muslima S MS; Chrismer, Irene C IC; Shelton, Monique O MO; Mankodi, Ami A; Grunseich, Christopher C; Tarnopolsky, Mark A MA; Tanji, Kurenai K; Hirano, Michio M; Riazi, Sheila S; Kraeva, Natalia N; Voermans, Nicol C NC; Gruber, Angela A; Allen, Carolyn C; Meilleur, Katherine G KG; Marks, Andrew R AR
Publication Date: 2020-06

Variant appearance in text: RYR1: 11798A>G; Tyr3933Cys
PubMed Link: 32236737
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessing the implications of positive genomic screening results.

Personalized Medicine
Waltz, Margaret M; Meagher, Karen M KM; Henderson, Gail E GE; Goddard, Katrina Ab KA; Muessig, Kristin K; Berg, Jonathan S JS; Weck, Karen E KE; Cadigan, R Jean RJ
Publication Date: 2020-03

Variant appearance in text: RYR1: Tyr3933Cys
PubMed Link: 32125936
Variant Present in the following documents:
  • Main text
  • pme-17-101.pdf
View BVdb publication page



Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.

Neurology. Genetics
Rubegni, Anna A; Malandrini, Alessandro A; Dosi, Claudia C; Astrea, Guja G; Baldacci, Jacopo J; Battisti, Carla C; Bertocci, Giulia G; Donati, M Alice MA; Dotti, M Teresa MT; Federico, Antonio A; Giannini, Fabio F; Grosso, Salvatore S; Guerrini, Renzo R; Lenzi, Sara S; Maioli, Maria A MA; Melani, Federico F; Mercuri, Eugenio E; Sacchini, Michele M; Salvatore, Simona S; Siciliano, Gabriele G; Tolomeo, Deborah D; Tonin, Paola P; Volpi, Nila N; Santorelli, Filippo M FM; Cassandrini, Denise D
Publication Date: 2019-10

Variant appearance in text: RYR1: 11798A>G; Tyr3933Cys
PubMed Link: 31517061
Variant Present in the following documents:
  • NG2019010587.pdf
View BVdb publication page



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: 11798A>G
PubMed Link: 30788618
Variant Present in the following documents:
  • Main text
  • 415_2019_Article_9209.pdf
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: Y3933C
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 5
  • 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



Correlation of phenotype with genotype and protein structure in RYR1-related disorders.

Journal Of Neurology
Todd, Joshua J JJ; Sagar, Vatsala V; Lawal, Tokunbor A TA; Allen, Carolyn C; Razaqyar, Muslima S MS; Shelton, Monique S MS; Chrismer, Irene C IC; Zhang, Xuemin X; Cosgrove, Mary M MM; Kuo, Anna A; Vasavada, Ruhi R; Jain, Minal S MS; Waite, Melissa M; Rajapakse, Dinusha D; Witherspoon, Jessica W JW; Wistow, Graeme G; Meilleur, Katherine G KG
Publication Date: 2018-11

Variant appearance in text: RYR1: Tyr3933Cys
PubMed Link: 30155738
Variant Present in the following documents:
  • Main text
  • 415_2018_Article_9033.pdf
  • 415_2018_9033_MOESM3_ESM.pdf
  • 415_2018_9033_MOESM1_ESM.pdf
View BVdb publication page



Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Human Genomics
Fichna, Jakub Piotr JP; Macias, Anna A; Piechota, Marcin M; Korostyński, Michał M; Potulska-Chromik, Anna A; Redowicz, Maria Jolanta MJ; Zekanowski, Cezary C
Publication Date: 2018-07-03

Variant appearance in text: RYR1: 11798A>G; Tyr3933Cys; rs147136339
PubMed Link: 29970176
Variant Present in the following documents:
  • 40246_2018_167_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours.

Nature
Ma, Xiaotu X; Liu, Yu Y; Liu, Yanling Y; Alexandrov, Ludmil B LB; Edmonson, Michael N MN; Gawad, Charles C; Zhou, Xin X; Li, Yongjin Y; Rusch, Michael C MC; Easton, John J; Huether, Robert R; Gonzalez-Pena, Veronica V; Wilkinson, Mark R MR; Hermida, Leandro C LC; Davis, Sean S; Sioson, Edgar E; Pounds, Stanley S; Cao, Xueyuan X; Ries, Rhonda E RE; Wang, Zhaoming Z; Chen, Xiang X; Dong, Li L; Diskin, Sharon J SJ; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Meltzer, Paul S PS; Lau, Ching C CC; Perlman, Elizabeth J EJ; Maris, John M JM; Meshinchi, Soheil S; Hunger, Stephen P SP; Gerhard, Daniela S DS; Zhang, Jinghui J
Publication Date: 2018-03-15

Variant appearance in text: RYR1: Y3933C
PubMed Link: 29489755
Variant Present in the following documents:
  • NIHMS939556-supplement-Table_2-7.xlsx, sheet 4
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: 11798A>G; Tyr3933Cys
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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: Y3933C; rs147136339
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Plos One
Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ
Publication Date: 2015

Variant appearance in text: RYR1: 11798A>G; rs147136339
PubMed Link: 26332594
Variant Present in the following documents:
  • pone.0135193.s002.xls, 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: Y3933C
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
Publication Date: 2015

Variant appearance in text: rs147136339
PubMed Link: 25807536
Variant Present in the following documents:
  • pone.0121644.s002.xls, sheet 1
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Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology
Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP
Publication Date: 2015-03

Variant appearance in text: RYR1: Y3933C
PubMed Link: 25794154
Variant Present in the following documents:
  • pcbi.1004147.s001.xlsx, sheet 1
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Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness.

Anesthesiology
Fiszer, Dorota D; Shaw, Marie-Anne MA; Fisher, Nickla A NA; Carr, Ian M IM; Gupta, Pawan K PK; Watkins, Elizabeth J EJ; Roiz de Sa, Daniel D; Kim, Jerry H JH; Hopkins, Philip M PM
Publication Date: 2015-05

Variant appearance in text: MHS: 11798A>G; rs147136339
PubMed Link: 25658027
Variant Present in the following documents:
  • Main text
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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: Y3933C
PubMed Link: 25517095
Variant Present in the following documents:
  • NIHMS61019-supplement-Supplementary_Table_1.pdf
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MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

Acta Neuropathologica Communications
Savarese, Marco M; Di Fruscio, Giuseppina G; Mutarelli, Margherita M; Torella, Annalaura A; Magri, Francesca F; Santorelli, Filippo Maria FM; Comi, Giacomo Pietro GP; Bruno, Claudio C; Nigro, Vincenzo V
Publication Date: 2014-09-11

Variant appearance in text: RYR1: 11798A>G; Y3933C
PubMed Link: 25214167
Variant Present in the following documents:
  • Main text
  • 40478_2014_Article_9100.pdf
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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: 11798A>G; Tyr3933Cys
PubMed Link: 23919265
Variant Present in the following documents:
  • 1750-1172-8-117-S1.xlsx, sheet 2
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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: Tyr3933Cys
PubMed Link: 23558838
Variant Present in the following documents:
  • Main text
View BVdb publication page