RYR1 c.11969G>T ;(p.G3990V)

Variant ID: 19-39034472-G-T

NM_000540.2(RYR1):c.11969G>T;(p.G3990V)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: RYR1: 11969G>T; Gly3990Val
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: 11969G>T; G3990V
PubMed Link: 35181665
Variant Present in the following documents:
  • 41525_2022_283_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Implementing Pharmacogenomics Testing: Single Center Experience at Arkansas Children's Hospital.

Journal Of Personalized Medicine
Gill, Pritmohinder S PS; Yu, Feliciano B FB; Porter-Gill, Patricia A PA; Boyanton, Bobby L BL; Allen, Judy C JC; Farrar, Jason E JE; Veerapandiyan, Aravindhan A; Prodhan, Parthak P; Bielamowicz, Kevin J KJ; Sellars, Elizabeth E; Burrow, Andrew A; Kennedy, Joshua L JL; Clothier, Jeffery L JL; Becton, David L DL; Rule, Don D; Schaefer, G Bradley GB
Publication Date: 2021-05-11

Variant appearance in text: rs193922843
PubMed Link: 34064668
Variant Present in the following documents:
  • Main text
  • jpm-11-00394.pdf
View BVdb publication page



Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Plos Genetics
Yu, Mullin Ho Chung MHC; Chan, Marcus Chun Yin MCY; Chung, Claudia Ching Yan CCY; Li, Andrew Wang Tat AWT; Yip, Chara Yin Wa CYW; Mak, Christopher Chun Yu CCY; Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Fung, Jasmine Lee Fong JLF; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Wong, Wilfred Hing Sang WHS; Yang, Jing J; Chui, William Chun Ming WCM; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Tang, Clara Sze Man CSM; Yeung, Kit San KS; Chung, Brian Hon Yin BHY
Publication Date: 2021-02

Variant appearance in text: RYR1: 11969G>T; rs193922843
PubMed Link: 33600428
Variant Present in the following documents:
  • pgen.1009323.s003.xlsx, sheet 1
View BVdb publication page



Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.

Orphanet Journal Of Rare Diseases
Lawal, Tokunbor A TA; Wires, Emily S ES; Terry, Nancy L NL; Dowling, James J JJ; Todd, Joshua J JJ
Publication Date: 2020-05-07

Variant appearance in text: RYR1: G3990V
PubMed Link: 32381029
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes.

Clinical Pharmacology And Therapeutics
Gonsalves, Stephen G SG; Dirksen, Robert T RT; Sangkuhl, Katrin K; Pulk, Rebecca R; Alvarellos, Maria M; Vo, Teresa T; Hikino, Keiko K; Roden, Dan D; Klein, Teri E TE; Poler, S Mark SM; Patel, Sephalie S; Caudle, Kelly E KE; Gordon, Ronald R; Brandom, Barbara B; Biesecker, Leslie G LG
Publication Date: 2019-06

Variant appearance in text: RYR1: Gly3990Val
PubMed Link: 30499100
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic epidemiology of malignant hyperthermia in the UK.

British Journal Of Anaesthesia
Miller, D M DM; Daly, C C; Aboelsaod, E M EM; Gardner, L L; Hobson, S J SJ; Riasat, K K; Shepherd, S S; Robinson, R L RL; Bilmen, J G JG; Gupta, P K PK; Shaw, M-A MA; Hopkins, P M PM
Publication Date: 2018-10

Variant appearance in text: RYR1: 11969G>T; Gly3990Val
PubMed Link: 30236257
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessing the pathogenicity of RYR1 variants in malignant hyperthermia.

British Journal Of Anaesthesia
Merritt, A A; Booms, P P; Shaw, M-A MA; Miller, D M DM; Daly, C C; Bilmen, J G JG; Stowell, K M KM; Allen, P D PD; Steele, D S DS; Hopkins, P M PM
Publication Date: 2017-04-01

Variant appearance in text: RYR1: 11969G>T; G3990V
PubMed Link: 28403410
Variant Present in the following documents:
  • Main text
View BVdb publication page