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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: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)
CV71023 IAGP 8554872ClinVarClinVar Annotator: match by term: Joubert syndromePMID:20512146 PMID:23351400 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28497568
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