LOVD - Variant listings for HBD

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Patient data (#0002300)
Disease rare variant
Reference So CC et al.;
Template Protein
Technique Amino
Remarks Hb anti-Lepore Hong Kong
# Reported 1
Ethnic origin -
Disease Mesh ID -
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change NG_000007.3:g.63160_70572dup
RNA change -
Protein -
Re-site -
Frequency -
DB-ID HBD_01973
HbVar link -

1 entry in HBD

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 1 NG_000007.3:g.63160_70572dup - - - - HBD_01973 -

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