LOVD - Variant listings for HBB

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Patient data (#0002540)
Disease beta+ thal
Reference Ivaldi G; HbVar A-2391-2010;
Template Protein
Technique Amino
Remarks beta nt -76 C>A
# Reported 1
Ethnic origin -
Disease Mesh ID -
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBB:c.-126C>A
RNA change -
Protein -
DB-ID HBB_02212
HbVar link -
Frequency -
Re-site -

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
Frequency Descending
Ascending
Re-site Descending
Ascending
+?/? Unknown 1 HBB:c.-126C>A - - HBB_02212 - - -

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