RYR1 c.119G>C ;(p.G40A)

Variant ID: 19-38931458-G-C

NM_000540.2(RYR1):c.119G>C;(p.G40A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: Gly40Ala
PubMed Link: 23558838
Variant Present in the following documents:
  • Main text
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