LOVD - Variant listings for HBB

About this overview [Show]

Patient data (#0002378)
Disease Hb variants
Reference KIRAT Emre; HbVar A-2391-2010;
Template Protein
Technique Amino
Remarks Hb Gaziantep
# Reported 1
Disease Mesh ID -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBB:c.30_dupT
RNA change -
Protein -
DB-ID HBB_02051
HbVar link -

1 entry in HBB

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
DB-ID Descending
Ascending
HbVar link Descending
Ascending
+?/? Unknown 1 HBB:c.30_dupT - - HBB_02051 -