Variant Term Annotation Report - Rat Genome Database

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VARIANT - TERM ANNOTATION REPORT

RGD ID:	155688308
Species:	Homo sapiens
RGD Object:	Variant
Symbol:	CV1829918
Name:	NM_004168.4(SDHA):c.1414G>T (p.Glu472Ter)

Acc ID:	DOID:9003055
Term:	Mitochondrial Complex II Deficiency Nuclear Type 1
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)
CV1829918		IAGP		8554872	ClinVar	ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1	PMID:22974104 PMID:24781757 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.