A sequence variant that changes the structure of the transcript. [ SO:ke ]
术语信息-
database
cross reference
- null:http://snpeff.sourceforge.net/SnpEff_manual.html
- EBI:www.ebi.ac.uk/mutations/recommendations/mutevent.html
variant annotation term
Jannovar:transcript_variant
[
http://doc-openbio.readthedocs.org/projects/jannovar/en/master/var_effects.html
]
has exact synonym
transcript variant
Jannovar:transcript_variant
snpEff:TRANSCRIPT
VAAST:transcript_variant