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bad p. for silent changes #317
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Original comment by Vivien Deshaies (Bitbucket: vdeshaies, GitHub: viv-1): Here is the link to the corresponding hgvs recommendation : http://www.hgvs.org/mutnomen/recs-prot.html |
Original comment by Martijn Vermaat (Bitbucket: martijnvermaat, GitHub: martijnvermaat): That page reads (emphasis mine):
That's not the same as should. The page also reads:
Which I think applies to this case, so That said, HGVS on protein level is often confusing to me, and on the new website the wording is again different (I think the Protein / Substitution page applies). By the way, |
Original comment by Reece Hart (Bitbucket: reece, GitHub: reece): This issue is nearly complete. There's one corner case for us to consider. See The question is about what should happen when there's an MNV that spans multiple AAs. In that example, a dinucleotide MNV spans the 3rd and 1st positions of adjacent exons. Currently, Comments? |
Originally reported by: Vivien Deshaies (Bitbucket: vdeshaies, GitHub: viv-1)
Hello,
It seems that there is a problem with p. notation in the module for silent changes.
Example
According to hgvs recommendations this case should be reported as "NP_000050.2:p.Lys2597="
This problem is present in 0.4.4 version. Do you plan to fix this ?
Do you want me to create a patch ?
Best regards,
Vivien
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