Dear Raymond, you assume translation will be initiated at the first ATG translation initiation codon.

Dear Johan, That is incorrect; SVD-WG011 added the use of c. for intronic positions, and did not

Dear Matt, regarding your question, I suggest you ask the devlopers of the Mutalyzer tool first, they

Dear Evelien, probably, when you dive into the HGVS nomenclature recommendations, you might find

Dear Irina, for cases like this, see also other discussions in this list, the best description of the

For your entertainment, if you go to the development version of mutalyzer at: https://test.mutalyzer.

Dear Laura, apologies, I made a mistake in the description of the variant. Correct is NC_000019.10:g.

Dear Lorena, following HGVS nomenclature recommendations I suggest to describe the variant as

Dear Johan, Thank you very much for helping out. I understand your answer. Your recommendations can

Hi Katarzyna, All variants in clinical reports should really be described using the HGVS nomenclature

Dear Ana, sorry, I made a mistake, correct should be "The protein therefor is translated into

Dear Sock, please note my previous answer: "Since I assume you want to report the results of the

Dear Richard, please note the description you give (NC_000007.14:g128675621C>CTTC) does not follow

Dear Teresa, HGVS nomenclature has been designed to unequivocally describe variants in DNA, RNA and

Dear Johan, Thank you very much for taking the time to explain the correct notation and for pointing

Dear Ketaki, sorry to be slow with this reply; an answer is not that simple. 1) you do not give the

Dear Hannah, following HGVS nomenclature, the variant should be described as NC_000007.14:g.

Dear Kerri, following HGVS nomenclature the variant should be described as NC_000012.12:g.

Dear Johan, Sincere apologies for omitting the NM_. and many many thanks for your help on this case.

thanks! O martes, 19 de maio de 2026 á/s 09:53:15 UTC+2, Johan den Dunnen escribiu: Dear Julio, yes,

Gracias! O xoves, 30 de abril de 2026 á/s 08:45:12 UTC+2, Johan den Dunnen escribiu: Dear julio,

Dear Lucy, the guidance on the website (https://hgvs-nomenclature.org/stable/recommendations/DNA/

Dear Maria, yes, when the variant was identified in homozygosity, following HGVS nomenclature "

Dear Dmitry, using HGVS nomenclature, LOH with a copy number change is described as a deletion. As

Dear Hajar, I am not sure what information you need. HGVS nomenclature is a standard to report

Dear Simona, indeed, following HGVS nomenclature the variant should be described as NC_000006.12:g.

Hi Manuel- Yes, a variant that inserts or deletes sequence in the context of a repeated region is

Dear Fatima, that's up to you, you add the predicted consequences. When you are quite sure the

Thank you all for your ongoing support. I am exploring ways to incorporate HGVS nomenclature into a

Dear Deivid, HGVS nomenclature is about describing variants. HGVS nomenclature is not about how to