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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8690674
Species: Homo sapiens
RGD Object: Variant
Symbol: CV140625
Name: NM_000093.5(COL5A1):c.738C>T (p.Thr246=)
Acc ID: DOID:0080727
Term: Ehlers-Danlos syndrome arthrochalasia type 1
Definition: An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/18409203/ "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)
CV140625 IAGP 8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7APMID:12145749 PMID:22696272 PMID:25741868 PMID:28492532
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