LOVD - Variant listings for HBB

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Patient data (#0002252)
Disease beta+ thal
Reference PIRASTRU, M. and coll.; HbVar A-2391-2010;
Template Protein
Technique Amino
Remarks -72 (T>A) beta+
# Reported 1
Disease Mesh ID D013789

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBB:c.-122T>A   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein -
DB-ID HBB_01926
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.-122T>A - - HBB_01926 HbVar