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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8611832
Species: Homo sapiens
RGD Object: Variant
Symbol: CV58219
Name: NM_000368.5(TSC1):c.568C>T (p.Arg190Cys)
Acc ID: DOID:13515
Term: tuberous sclerosis
Definition: A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex#synonyms "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)
CV58219 IAGP 8554872ClinVarClinVar Annotator: match by term: Tuberous sclerosis syndromePMID:10227394 PMID:19747374 PMID:21309039 PMID:23857276 PMID:25741868 PMID:28492532
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