RYR1 c.14680G>A ;(p.A4894T)

Variant ID: 19-39075616-G-A

NM_000540.2(RYR1):c.14680G>A;(p.A4894T)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Effects of Remimazolam and Propofol on Ca2+ Regulation by Ryanodine Receptor 1 with Malignant Hyperthermia Mutation.

Biomed Research International
Watanabe, Tomoyuki T; Miyoshi, Hirotsugu H; Noda, Yuko Y; Narasaki, Soshi S; Morio, Atsushi A; Toyota, Yukari Y; Kimura, Hiroshi H; Mukaida, Keiko K; Yasuda, Toshimichi T; Tsutsumi, Yasuo M YM
Publication Date: 2021

Variant appearance in text: RYR1: Ala4894Thr
PubMed Link: 33490280
Variant Present in the following documents:
  • Main text
  • BMRI2021-8845129.pdf
View BVdb publication page



Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings.

Frontiers In Neurology
Todd, Joshua J JJ; Razaqyar, Muslima S MS; Witherspoon, Jessica W JW; Lawal, Tokunbor A TA; Mankodi, Ami A; Chrismer, Irene C IC; Allen, Carolyn C; Meyer, Mary D MD; Kuo, Anna A; Shelton, Monique S MS; Amburgey, Kim K; Niyazov, Dmitriy D; Fequiere, Pierre P; Bönnemann, Carsten G CG; Dowling, James J JJ; Meilleur, Katherine G KG
Publication Date: 2018

Variant appearance in text: RYR1: Ala4894Thr
PubMed Link: 29556213
Variant Present in the following documents:
  • Main text
  • fneur-09-00118.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: 14680G>A
PubMed Link: 23919265
Variant Present in the following documents:
  • 1750-1172-8-117-S1.xlsx, sheet 1
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: RYR1: A4894T
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page