Name *
Name
of the person reporting
according to NM_000540.2
please add any additional RYR1 variants found in this patient
give a short description of the clinical MH reaction. Write 'none' if there was none.
carrying this variant tested in your laboratory. Please include ONLY families tested by IVCT because of an anaesthetic MH-event.
In vitro functional study *
Is there supportive evidence of gain of function effect on intracellular calcium release of this mutation? Describe in comments section below.
In vivo functional study *
Is there supportive evidence of gain of function effect on intracellular calcium release of this mutation? Describe in comments section below.