RYR1 c.5441T>A ;(p.M1814K)

Variant ID: 19-38976736-T-A

NM_000540.2(RYR1):c.5441T>A;(p.M1814K)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The role of CACNA1S in predisposition to malignant hyperthermia.

Bmc Medical Genetics
Carpenter, Danielle D; Ringrose, Christopher C; Leo, Vincenzo V; Morris, Andrew A; Robinson, Rachel L RL; Halsall, P Jane PJ; Hopkins, Philip M PM; Shaw, Marie-Anne MA
Publication Date: 2009-10-13

Variant appearance in text: RYR1: 5441T>A
PubMed Link: 19825159
Variant Present in the following documents:
  • Main text
  • 1471-2350-10-104.pdf
View BVdb publication page