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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8607491
Species: Homo sapiens
RGD Object: Variant
Symbol: CV53817
Name: NM_003002.4(SDHD):c.204C>T (p.Ser68=)
Acc ID: DOID:9006360
Term: Paragangliomas with Sensorineural Hearing Loss
Definition: null
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)
CV53817 IAGP 8554872ClinVarClinVar Annotator: match by term: Paragangliomas with sensorineural hearing lossPMID:24033266 PMID:25741868 PMID:28492532
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