LOVD - Variant listings for HBA1

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Patient data (#0000194)
Disease Hb variants
Reference -
Template Protein
Technique Amino
Remarks Hb Neuilly-sur-Marne
# Reported 1
Ethnic origin -
Disease Mesh ID D006455
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 2
DNA change HBA1:p.Leu87_His88insSerAspLeu
RNA change -
Protein p.Leu87_His88insSerAspLeu
Re-site -
Frequency -
DB-ID HBA1_00194
HbVar link HbVar

1 entry in HBA1

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Re-site Descending
Ascending
Frequency Descending
Ascending
DB-ID Descending
Ascending
HbVar link Descending
Ascending
+?/? Unknown 2 HBA1:p.Leu87_His88insSerAspLeu - p.Leu87_His88insSerAspLeu - - HBA1_00194 HbVar

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