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VARIANT - TERM ANNOTATION REPORT

RGD ID: 28873421
Species: Homo sapiens
RGD Object: Variant
Symbol: CV899925
Name: NM_024596.5(MCPH1):c.192G>A (p.Gln64=)
Acc ID: DOID:0070285
Term: primary autosomal recessive microcephaly 1
Definition: A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12046007 "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)
CV899925 IAGP 8554872ClinVarClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessivePMID:25741868 PMID:28492532
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