RYR1 c.212C>A ;(p.S71Y)

Variant ID: 19-38933035-C-A

NM_000540.2(RYR1):c.212C>A;(p.S71Y)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: 212C>A; Ser71Tyr
PubMed Link: 35428369
Variant Present in the following documents:
  • Main text
  • 40478_2022_Article_1357.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: 212C>A; S71Y; rs118192113
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



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: 212C>A
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



Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies.

Plos One
Stevens, Elizabeth E; Torelli, Silvia S; Feng, Lucy L; Phadke, Rahul R; Walter, Maggie C MC; Schneiderat, Peter P; Eddaoudi, Ayad A; Sewry, Caroline A CA; Muntoni, Francesco F
Publication Date: 2013

Variant appearance in text: RYR1: S71Y
PubMed Link: 23894383
Variant Present in the following documents:
  • Main text
  • pone.0068958.pdf
View BVdb publication page



A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity.

Cell Calcium
Ghassemi, Farshid F; Vukcevic, Mirko M; Xu, Le L; Zhou, Haiyan H; Meissner, Gerhard G; Muntoni, Francesco F; Jungbluth, Heinz H; Zorzato, Francesco F; Treves, Susan S
Publication Date: 2009-02

Variant appearance in text: RYR1: S71Y
PubMed Link: 19027160
Variant Present in the following documents:
  • Main text
View BVdb publication page