RYR1 c.12499G>T ;(p.E4167*)

Variant ID: 19-39051969-G-T

NM_000540.2(RYR1):c.12499G>T;(p.E4167*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: 12499G>T
PubMed Link: 33646171
Variant Present in the following documents:
  • Main text
  • jnd-8-jnd200549.pdf
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: E4167X
PubMed Link: 33483695
Variant Present in the following documents:
  • 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3
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: E4167X
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
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: Glu4167*
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