Variant Term Annotation Report - Rat Genome Database

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VARIANT - TERM ANNOTATION REPORT

RGD ID:	11628104
Species:	Homo sapiens
RGD Object:	Variant
Symbol:	CV348767
Name:	NM_000540.3(RYR1):c.9353C>T (p.Ala3118Val)

Acc ID:	DOID:9005001
Term:	Congenital Neuromuscular Disease, with Uniform Type 1 Fiber
Definition:	null

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)
CV348767		IAGP		8554872	ClinVar	ClinVar Annotator: match by term: Neuromuscular disease, congenital, with uniform type 1 fiber	PMID:25741868 PMID:28492532

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.