RYR1 c.8342_8343del ;(p.I2781Rfs*49)

Variant ID: 19-38995978-CAT-C

NM_000540.2(RYR1):c.8342_8343del;(p.I2781Rfs*49)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


A case for genomic medicine in South African paediatric patients with neuromuscular disease.

Frontiers In Pediatrics
Raga, Sharika V SV; Wilmshurst, Jo Madeleine JM; Smuts, Izelle I; Meldau, Surita S; Bardien, Soraya S; Schoonen, Maryke M; van der Westhuizen, Francois Hendrikus FH
Publication Date: 2022

Variant appearance in text: RYR1: 8342_8343delTA
PubMed Link: 36467485
Variant Present in the following documents:
  • Main text
  • fped-10-1033299.pdf
View BVdb publication page



Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil.

Nature Communications
Naslavsky, Michel S MS; Scliar, Marilia O MO; Yamamoto, Guilherme L GL; Wang, Jaqueline Yu Ting JYT; Zverinova, Stepanka S; Karp, Tatiana T; Nunes, Kelly K; Ceroni, José Ricardo Magliocco JRM; de Carvalho, Diego Lima DL; da Silva Simões, Carlos Eduardo CE; Bozoklian, Daniel D; Nonaka, Ricardo R; Dos Santos Brito Silva, Nayane N; da Silva Souza, Andreia A; de Souza Andrade, Heloísa H; Passos, Marília Rodrigues Silva MRS; Castro, Camila Ferreira Bannwart CFB; Mendes-Junior, Celso T CT; Mercuri, Rafael L V RLV; Miller, Thiago L A TLA; Buzzo, Jose Leonel JL; Rego, Fernanda O FO; Araújo, Nathalia M NM; Magalhães, Wagner C S WCS; Mingroni-Netto, Regina Célia RC; Borda, Victor V; Guio, Heinner H; Rojas, Carlos P CP; Sanchez, Cesar C; Caceres, Omar O; Dean, Michael M; Barreto, Mauricio L ML; Lima-Costa, Maria Fernanda MF; Horta, Bernardo L BL; Tarazona-Santos, Eduardo E; Meyer, Diogo D; Galante, Pedro A F PAF; Guryev, Victor V; Castelli, Erick C EC; Duarte, Yeda A O YAO; Passos-Bueno, Maria Rita MR; Zatz, Mayana M
Publication Date: 2022-03-04

Variant appearance in text: RYR1: 8341_8342del; I2781fs; rs758580075
PubMed Link: 35246524
Variant Present in the following documents:
  • 41467_2022_28648_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page



Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?

Bjog : An International Journal Of Obstetrics And Gynaecology
Mellis, R R; Eberhardt, R Y RY; Hamilton, S J SJ; , ; McMullan, D J DJ; Kilby, M D MD; Maher, E R ER; Hurles, M E ME; Giordano, J L JL; Aggarwal, V V; Goldstein, D B DB; Wapner, R J RJ; Chitty, L S LS
Publication Date: 2022-01

Variant appearance in text: RYR1: 8342_8343delTA; Ile2781Argfs*49
PubMed Link: 34411415
Variant Present in the following documents:
  • Main text
  • BJO-129-52.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: 8342_8343delTA
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_Article_655.pdf
  • 40478_2018_655_MOESM1_ESM.xlsx, sheet 7
  • 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: 8342_8343delTA; Ile2781ArgfsX49
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