LOVD - Variant listings for HBB

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Patient data (#0001267)
Disease beta0 thal
Reference Aulehla-Scholz C et al.;Diaz-Chico JC et al.;
Template Protein
Technique Amino
Remarks 290 bp deletion beta0
# Reported 1
Disease Mesh ID D013789

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBB:c.-176_92+25del   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein -
DB-ID HBB_01267
HbVar link HbVar

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.-176_92+25del - - HBB_01267 HbVar