mutalyzer / mutalyzer2

HGVS variant nomenclature checker
https://mutalyzer.nl
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Name Checker: variant involving ATG translation start #417

Open jtdendunnen opened 7 years ago

jtdendunnen commented 7 years ago

Since variant NM000777.3:c.-5-1del leaves the ATG in tact the predicted consequence at protein level is given by the Name Checker is "p.(=)". This is not correct, since the "Kozak sequence" around the ATG is affected the consequence can not be predicted and should be given as "p.?"