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VARIANT - TERM ANNOTATION REPORT

RGD ID:	12881164
Species:	Homo sapiens
RGD Object:	Variant
Symbol:	CV391130
Name:	NM_000143.4(FH):c.986A>G (p.Asn329Ser)

Acc ID:	DOID:9005510
Term:	Hereditary Leiomyomatosis and Renal Cell Cancer
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)
CV391130		IAGP		8554872	ClinVar	ClinVar Annotator: match by term: FH-related condition	PMID:21520333 PMID:24334767 PMID:25004247 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.