Reportingnew mutation
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Hajer
Apr 28, 2026, 4:16:16 AM (3 days ago) Apr 28
to hgvs-nom...@googlegroups.com
Hi every one
Please guide me through the process of reporting new novel mutation.
Thank you
Hajar Al.Ghaithi
Johan den Dunnen
2:47 AM (20 hours ago) 2:47 AM
to HGVS Nomenclature
Dear Hajar,
I am not sure what information you need. HGVS nomenclature is a standard to report variants. You can use databases like ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) or LOVD (https://databases.lovd.nl/shared) to report and share variant and phenotype information.
Best regards,
Johan den Dunnen
HUGO HGVS Variant Nomenclature Committee (HVNC)
Johan den Dunnen
HUGO HGVS Variant Nomenclature Committee (HVNC)
Op dinsdag 28 april 2026 om 10:16:16 UTC+2 schreef h.gh...@gmail.com:
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