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VARIANT - TERM ANNOTATION REPORT

RGD ID: 13832639
Species: Homo sapiens
RGD Object: Variant
Symbol: CV590035
Name: NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter)
Acc ID: HP:0000486
Term: Strabismus
Definition: A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Definition Source(s): https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123, PMID:26319345
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)
CV590035 IAGP 8554872ClinVarClinVar Annotator: match by term: Strabismus

PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227
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