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VARIANT - TERM ANNOTATION REPORT

RGD ID:	34888479
Species:	Homo sapiens
RGD Object:	Variant
Symbol:	CV917732
Name:	NM_001165963.4(SCN1A):c.1060G>C (p.Ala354Pro)

Acc ID:	DOID:308
Term:	early myoclonic encephalopathy
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)
CV917732		IAGP		8554872	ClinVar	ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe	PMID:18804930 PMID:25348405 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.