mutalyzer / mutalyzer2

HGVS variant nomenclature checker
https://mutalyzer.nl
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NameChecker c.6614+1G>A error suggestion #464

Open jtdendunnen opened 5 years ago

jtdendunnen commented 5 years ago

Using NM_004006.2:c.6614+1G>A in Mutalyzer's NameChecker gives: Intronic position given for a non-genomic reference sequence.

Suggest to make the error message more informative, e.g.: Intronic position given for a non-genomic reference sequence. Correct descriptions specify a genomic reference sequence like NC_000023.11:(NM_004006.2):c.6614+1G>A, NG_012232.1(NM_004006.2):c.6614+1G>A or LRG_199t1:c.6614+1G>A.