RYR1 c.9605C>T ;(p.P3202L)

Variant ID: 19-39006777-C-T

NM_000540.2(RYR1):c.9605C>T;(p.P3202L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


'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: 9605C>T; Pro3202Leu; rs754002399
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: MHS: 9605C>T
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