RYR1 c.12689T>G ;(p.M4230R)

Variant ID: 19-39055663-T-G

NM_000540.2(RYR1):c.12689T>G;(p.M4230R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness.

Anesthesiology
Fiszer, Dorota D; Shaw, Marie-Anne MA; Fisher, Nickla A NA; Carr, Ian M IM; Gupta, Pawan K PK; Watkins, Elizabeth J EJ; Roiz de Sa, Daniel D; Kim, Jerry H JH; Hopkins, Philip M PM
Publication Date: 2015-05

Variant appearance in text: MHS: 12689T>G
PubMed Link: 25658027
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.

Anesthesia And Analgesia
Brandom, Barbara W BW; Bina, Saiid S; Wong, Cynthia A CA; Wallace, Tarina T; Visoiu, Mihaela M; Isackson, Paul J PJ; Vladutiu, Georgirene D GD; Sambuughin, Nyamkhishig N; Muldoon, Sheila M SM
Publication Date: 2013-05

Variant appearance in text: RYR1: Met4230Arg
PubMed Link: 23558838
Variant Present in the following documents:
  • Main text
View BVdb publication page