RYR1 c.1250T>C ;(p.L417P)

Variant ID: 19-38943464-T-C

NM_000540.2(RYR1):c.1250T>C;(p.L417P)

This variant was identified in 4 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: 1250T>C; Leu417Pro
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



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: 1250T>C; Leu417Pro
PubMed Link: 35428369
Variant Present in the following documents:
  • Main text
  • 40478_2022_Article_1357.pdf
View BVdb publication page



Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders.

Scientific Reports
Rossi, Joseph J JJ; Rosenfeld, Jill A JA; Chan, Katie M KM; Streff, Haley H; Nankivell, Victoria V; Peet, Daniel J DJ; Whitelaw, Murray L ML; Bersten, David C DC
Publication Date: 2021-03-23

Variant appearance in text: RYR1: 1250T>C; L417P
PubMed Link: 33758288
Variant Present in the following documents:
  • 41598_2021_86041_MOESM1_ESM.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: 1250T>C; Leu417Pro
PubMed Link: 23919265
Variant Present in the following documents:
  • 1750-1172-8-117-S1.xlsx, sheet 2
View BVdb publication page