RYR1 c.592C>T ;(p.L198=)

Variant ID: 19-38935278-C-T

NM_000540.2(RYR1):c.592C>T;(p.L198=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: RYR1: Leu198=
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report.

Bmc Research Notes
Cuperman, Thais T; Fernandes, Stephanie A SA; Lourenço, Naila C V NC; Yamamoto, Lydia U LU; Silva, Helga C A HC; Pavanello, Rita C M RC; Yamamoto, Guilherme L GL; Zatz, Mayana M; Oliveira, Acary S B AS; Vainzof, Mariz M
Publication Date: 2014-08-01

Variant appearance in text: RYR1: L198L
PubMed Link: 25084811
Variant Present in the following documents:
  • Main text
  • 1756-0500-7-487.pdf
View BVdb publication page



A double mutation of the ryanodine receptor type 1 gene in a malignant hyperthermia family with multiminicore myopathy.

Journal Of Clinical Neurology (Seoul, Korea)
Jeong, Seul-Ki SK; Kim, Dong-Chan DC; Cho, Yong-Gon YG; Sunwoo, Il-Nam IN; Kim, Dal-Sik DS
Publication Date: 2008-09

Variant appearance in text: RYR1: Leu198Leu
PubMed Link: 19513315
Variant Present in the following documents:
  • jcn-4-123.pdf
View BVdb publication page