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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8600819
Species: Homo sapiens
RGD Object: Variant
Symbol: CV33005
Name: NM_001127701.1(SERPINA1):c.272G>A (p.Gly91Glu)
Acc ID: DOID:13372
Term: alpha 1-antitrypsin deficiency
Definition: A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Alpha_1-antitrypsin_deficiency "DO" "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000120.htm "DO" "DO", https://alpha1.org/what-is-alpha1/ "DO" "DO", https://www.genome.gov/Genetic-Disorders/Alpha-1-Antitrypsin-Deficiency "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 SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
CV33005 IAGP 8554872ClinVarClinVar Annotator: match by term: Alpha-1-antitrypsin deficiencyPMID:14985567 PMID:1967187 PMID:2696185
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