LOVD - Variant listings for HBB

About this overview [Show]

Patient data (#0002283)
Disease beta+ thal
Reference Nagar R et al.;
Template Protein
Technique Amino
Remarks beta nt -223 T>C
# Reported 1
Disease Mesh ID -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBB:c.-273T>C   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein -
DB-ID HBB_01957
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.-273T>C - - HBB_01957 -