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VARIANT - TERM ANNOTATION REPORT

RGD ID: 151794638
Species: Homo sapiens
RGD Object: Variant
Symbol: CV1448723
Name: NM_000093.5(COL5A1):c.5308A>G (p.Asn1770Asp)
Acc ID: DOID:14720
Term: Ehlers-Danlos syndrome classic type 1
Definition: An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/28306229/ "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)
CV1448723 IAGP 8554872ClinVarClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1PMID:28492532
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