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Missing exon annotation > exon=CDS #461

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jtdendunnen opened this issue Jan 21, 2019 · 1 comment
Open

Missing exon annotation > exon=CDS #461

jtdendunnen opened this issue Jan 21, 2019 · 1 comment

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

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@jtdendunnen @mihailefter