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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8605294
Species: Homo sapiens
RGD Object: Variant
Symbol: CV51621
Name: NM_000169.3(GLA):c.1102G>A (p.Ala368Thr)
Acc ID: DOID:14499
Term: Fabry disease
Definition: A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/fabry-disease "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)
CV51621 IAGP 8554872ClinVarClinVar Annotator: match by term: Fabry diseasePMID:22551898 PMID:23935525 PMID:24033266 PMID:24334114 PMID:24503780 PMID:25741868 PMID:27576502 PMID:27657681 PMID:28492532 PMID:29305833 PMID:29330335 PMID:30985853 PMID:31036492 PMID:31996269 PMID:32023956 PMID:32418857 PMID:32995357 PMID:37441486
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