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VARIANT - TERM ANNOTATION REPORT

RGD ID: 11615393
Species: Homo sapiens
RGD Object: Variant
Symbol: CV334658
Name: NM_025114.4(CEP290):c.503G>A (p.Arg168His)
Acc ID: DOID:0050777
Term: Joubert syndrome
Definition: A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Joubert_syndrome "DO" "DO", http://omim.org/entry/213300?search=joubert&highlight=joubert "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)
CV334658 IAGP 8554872ClinVarClinVar Annotator: match by term: Joubert syndromePMID:25741868 PMID:28492532 PMID:30718709 PMID:33924653
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