Variant Term Annotation Report - Rat Genome Database

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VARIANT - TERM ANNOTATION REPORT

RGD ID:	13623629
Species:	Homo sapiens
RGD Object:	Variant
Symbol:	CV515449
Name:	NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met)

Acc ID:	DOID:8545
Term:	malignant hyperthermia
Definition:	A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). (DO)
Definition Source(s):	http://en.wikipedia.org/wiki/Malignant_hyperthermia "DO" "DO"

Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.

Object Symbol	Qualifier	Evidence	With	Reference	Source	Notes	Original Reference(s)
CV515449		IAGP		8554872	ClinVar	ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5	PMID:25741868 PMID:28492532

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