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VARIANT - TERM ANNOTATION REPORT

RGD ID: 10055029
Species: Homo sapiens
RGD Object: Variant
Symbol: CV197708
Name: NM_000138.5(FBN1):c.4150A>G (p.Met1384Val)
Acc ID: DOID:0111561
Term: stiff skin syndrome
Definition: A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/20375004 "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)
CV197708 IAGP 8554872ClinVarClinVar Annotator: match by term: Stiff skin syndromePMID:25741868 PMID:26272908 PMID:28492532
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