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VARIANT - TERM ANNOTATION REPORT

RGD ID: 10052951
Species: Homo sapiens
RGD Object: Variant
Symbol: CV195562
Name: NM_000169.3(GLA):c.1087C>T (p.Arg363Cys)
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.
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