Variant Term Annotation Report - Rat Genome Database

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VARIANT - TERM ANNOTATION REPORT

RGD ID:	8560006
Species:	Homo sapiens
RGD Object:	Variant
Symbol:	CV22623
Name:	NM_006214.4(PHYH):c.805A>C (p.Asn269His)

Acc ID:	DOID:9003094
Term:	Adult Refsum Disease, 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)
CV22623		IAGP		8554872	ClinVar	ClinVar Annotator: match by term: Refsum disease, adult, 1	PMID:2433405 PMID:9326940

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