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Unclear validation error for intronic variants mapped to processed transcripts #213

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reece opened this issue Oct 8, 2014 · 1 comment
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reece commented Oct 8, 2014

Originally reported by: Kevin Jacobs (Bitbucket: bioinformed, GitHub: bioinformed)


NM_153818.1:c.600+1G>A references an intronic variant, but it mapped to a processed transcript. Mutalyzer gives a fairly clear validation failure message:

#!python
Intronic position given for a non-genomic reference sequence.

while hgvs gives a less clear message:

#!python
Variant reference does not agree with reference sequence

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reece commented Jul 2, 2015

Original comment by Reece Hart (Bitbucket: reece, GitHub: reece):


closes #213: clarify warning message when validating intronic variants

@reece reece added minor enhancement New feature or request labels Mar 9, 2017
@reece reece added this to the 0.4.0 milestone Mar 9, 2017
@reece reece closed this as completed Mar 9, 2017
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