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VARIANT - TERM ANNOTATION REPORT

RGD ID: 150436485
Species: Homo sapiens
RGD Object: Variant
Symbol: CV1275138
Name: NM_005269.3(GLI1):c.3298G>C (p.Glu1100Gln)
Acc ID: DOID:9008857
Term: Postaxial Polydactyly, Type A8
Definition: A disease characterized by the presence of postaxial extra digits (hexadactyly) on the hands and/or the feet. The anomalous digits are well formed and have nails. PAPA8 is caused by homozygous mutation in the GLI1 gene on chromosome 12q13. (OMIM)
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)
CV1275138 IAGP 8554872ClinVarClinVar Annotator: match by term: Polydactyly, postaxial, type A8PMID:25741868
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