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  • Mutalyzer
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  • #466

Closed
Open
Created Jan 29, 2019 by Mihai Lefter@mlefterMaintainer

Improve NameCheker c.6611_6612insA warning

Created by: jtdendunnen

Using NM_004006.2:c.6611_6612insA in the NameChecker gives as warning: Insertion of A at position 6855_6856 was given, however, the HGVS notation prescribes that it should be a duplication of A at position 6855_6855. I agree that lower on the page c.6611dup is given but this is easily missed.

Users will not understand how 6611_6612 relates to 6855_6856. In addition "duplication of A at position 6855_6855" is not correct. Suggest to change to e.g.: Insertion of A at position n.6855_6856 was given, however, the HGVS notation prescribes that it should be a duplication of A at position n.6855.

Even better would be to give: Insertion of A at position c.6611_6612 was given, however, the HGVS notation prescribes that it should be a duplication of A at position n.6611.

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