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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8606906
Species: Homo sapiens
RGD Object: Variant
Symbol: CV53253
Name: NM_001146079.2(CLDN14):c.621C>T (p.Thr207=)
Acc ID: DOID:0110487
Term: autosomal recessive nonsyndromic deafness 29
Definition: An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CLDN14 gene on chromosome 21q22. (DO)
Definition Source(s): PMID:11163249 "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)
CV53253 IAGP 8554872ClinVarClinVar Annotator: match by term: Deafness, autosomal recessive 29PMID:23590985 PMID:24033266 PMID:28492532
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