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VARIANT - TERM ANNOTATION REPORT

RGD ID: 126760982
Species: Homo sapiens
RGD Object: Variant
Symbol: CV1028007
Name: NM_017946.4(FKBP14):c.137A>G (p.Asp46Gly)
Acc ID: DOID:0080735
Term: Ehlers-Danlos syndrome kyphoscoliotic type 2
Definition: An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15. (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)
CV1028007 IAGP 8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing lossPMID:28492532
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