RNA description suggestions.
Created by: mutalyzerbot
Original ticket: https://humgenprojects.lumc.nl/trac/mutalyzer/ticket/16 Original date: 2011/01/24 Original reporter: j DOT f DOT j DOT laros AND lumc DOT nl
ddunnen@humgen.nl):
From the original reporter (Johan den Dunnen- ik zou een regel over RNA toevoegen; assuming you have not analysed RNA, the predicted effect on RNA level can best be described as r.(?) NOTE r.(?) indicates RNA was not analysed but there is no reason to suggest that the consequences are other then those on DNA level.
Voor varianten op posities +1, +2, -2, -1; assuming you have not analysed RNA, the predicted effect on RNA level can best be described as r.spl? NOTE r.spl? indicates RNA was not analysed but that it is highly likely that the change directly affects RNA splicing
Voor varianten op posities +3 to +6 en -30 to -3 assuming you have not analysed RNA, the predicted effect on RNA level can best be described as r.(spl?) NOTE r.(spl?) indicates RNA was not analysed but that it can not be excluded that the change affects RNA splicing
Voor varianten op posities +7 to -31 assuming you have not analysed RNA, the predicted effect on RNA level can best be described as r.(=) NOTE r.(=) indicates RNA was not analysed but that it is not likely that the change affects RNA splicing
Idem, voor alle varianten op protein level deze tussen haakjes geven met de opmerking;