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VARIANT - TERM ANNOTATION REPORT

RGD ID: 13788180
Species: Homo sapiens
RGD Object: Variant
Symbol: CV541025
Name: NM_206933.4(USH2A):c.4616C>T (p.Thr1539Ile)
Acc ID: DOID:0110838
Term: Usher syndrome type 2A
Definition: An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/9624053 "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)
CV541025 IAGP 8554872ClinVarClinVar Annotator: match by term: Usher syndrome type 2APMID:23661368 PMID:23967202 PMID:25268133 PMID:25741868 PMID:28492532 PMID:29625443 PMID:30029497 PMID:31213501 PMID:31960602 PMID:32188678
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