Variant Term Annotation Report - Rat Genome Database

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VARIANT - TERM ANNOTATION REPORT

RGD ID:	151854815
Species:	Homo sapiens
RGD Object:	Variant
Symbol:	CV1483741
Name:	NM_001122752.2(SERPINI1):c.904G>A (p.Asp302Asn)

Acc ID:	DOID:0050831
Term:	familial encephalopathy with neuroserpin inclusion bodies
Definition:	A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern. (DO)
Definition Source(s):	http://ghr.nlm.nih.gov/condition/familial-encephalopathy-with-neuroserpin-inclusion-bodies "DO" "DO", http://www.jbc.org/content/277/19/17367 "DO" "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1238/viewFullReport "DO" "DO"

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)
CV1483741		IAGP		8554872	ClinVar	ClinVar Annotator: match by term: Encephalopathy, familial, with neuroserpin inclusion bodies	PMID:28492532

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