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hgvs c to p - handle case where there's a stop codon prior to the end of the coding sequence #110

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reece opened this issue Jan 21, 2014 · 4 comments
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reece commented Jan 21, 2014

Originally reported by: Rudolph Rico (Bitbucket: rrico, GitHub: rrico)


Some transcripts contain stop codons preceding the end of the coding sequence, e.g. NM_020451.2

Mutalyzer does not return a result; hgvsc_to_hgvsp currently throws an exception; this should handle this case gracefully.

Suggestion: p.?

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  • imported from: CORE-110 (Invitae access required)

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reece commented Jan 21, 2014

Original comment by Rudolph Rico (Bitbucket: rrico, GitHub: rrico):


p.s. this came out the clinvitae data analysis (issue #102)

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reece commented Jan 21, 2014

Original comment by Rudolph Rico (Bitbucket: rrico, GitHub: rrico):


Checked in fix & tests; will report p.?. One note - this does end up creating some somewhat cryptic cases where a seemingly innocuous substitution would return p.?. There's no way to "annotate" that decision.

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reece commented Jan 21, 2014

Original comment by Rudolph Rico (Bitbucket: rrico, GitHub: rrico):


CI tests pass. Closing.

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reece commented Apr 15, 2014

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


Removing milestone: milestone 5 (automated comment)

@reece reece added minor bug Something isn't working labels Mar 9, 2017
@reece reece closed this as completed Mar 9, 2017
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