Nomenclature for C19orf44 variants
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Hafiz Muhammad Jafar Hussain
Apr 28, 2025, 7:20:31 AMApr 28
to HGVS Nomenclature
Please send me HGVS nomenclature of
c19ORF44 c.549_550del;p.Ser185Profs*2, c.1168C>T;p.Gln390* and c.976_977del;p.Leu326Lysfs*15 ASAP.
Johan den Dunnen
May 1, 2025, 12:56:58 PMMay 1
to HGVS Nomenclature
Dear hafizaasi19,
You can check whether variant descriptions follow HGVS nomenclature using freely available online tools like Mutalyzer (www.Mutalyzer.nl) and Variant Validator (variantvalidator.org).
Best regards,
Johan den Dunnen
HUGO HGVS Variant Nomenclature Committee (HVNC)
Johan den Dunnen
HUGO HGVS Variant Nomenclature Committee (HVNC)
Op maandag 28 april 2025 om 13:20:31 UTC+2 schreef hafiz...@gmail.com:
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