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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
gene variant +    
gene fusion +  
genic downstream transcript variant 
genic upstream transcript variant 
transcript variant +  
A sequence variant that changes the structure of the transcript.
translational product structure variant +  

Synonyms
Exact Synonyms: Jannovar:transcript_variant ;   VAAST:transcript_variant ;   snpEff:TRANSCRIPT ;   transcript variant
Xrefs: EBI:www.ebi.ac.uk/mutations/recommendations/mutevent.html ;   http://snpeff.sourceforge.net/SnpEff_manual.html
Definition Sources: SO:ke

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.