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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8617116
Species: Homo sapiens
RGD Object: Variant
Symbol: CV71023
Name: NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)
Acc ID: DOID:0110980
Term: Joubert syndrome 1
Definition: A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/19668216 "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)
CV71023 IAGP 8554872ClinVarClinVar Annotator: match by term: Joubert-Boltshauser syndromePMID:20512146 PMID:23351400 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28497568
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