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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
intron variant +    
coding transcript intron variant +  
conserved intron variant 
cryptic splice site variant +  
exon loss variant 
extended intronic splice region variant 
intron gain variant 
non coding transcript intron variant 
splice polypyrimidine tract variant 
splice region variant +  
splice site variant +  
A sequence variant that changes the first two or last two bases of an intron, or the 5th base from the start of the intron in the orientation of the transcript.

Synonyms
Exact Synonyms: VAT:spliceOverlap ;   essential_splice_site ;   splice site variant
Xrefs: http://vat.gersteinlab.org/formats.php "VAT"
Definition Sources: http://ensembl.org/info/docs/variation/index.html

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