Quality control

Please take note, that RYR1 is now included in the European molecular quality network (EMQN). For more details see here.

Characterisation of sequence variants


Genetic information on a single RYR1 variant

If you want to know the amino acid change, the position on GRCh37 or GRCh38, REVEL-Score, Grantham score…. then visit this website.


Diagnostic MH mutations

To see a list of the diagnostic (ie pathogenic and likely pathogenic) mutations in RYR1 please follow the link.


Variants unlikely to cause malignant hypethermia

The EMHG will (in future) compile a list of variants unlikely to cause malignant hyperthermia.