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mutalyzer / mutalyzer2

HGVS variant nomenclature checker
https://mutalyzer.nl
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Missing exon annotation > exon=CDS #461

Open jtdendunnen opened 5 years ago

jtdendunnen commented 5 years ago

The predicted consequence at protein level for NM_152263.2:c.855del is not correct. The cause seems to be that NM_152263.2 does not contain annotated exon features and in situations like this Mutalyzer considers only one exon with the same coordinates as the CDS. This is not correct.

mihailefter commented 5 years ago

Dear Johan, do you think that it would be more appropriate for Mutalyzer to fail hard for such references?