LOVD - Variant listings for HBB

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Patient data (#0002203)
Disease beta0 thal
Reference KUCEROVA Jana (F-1726-2013)Kynclova E et al.;
Template Protein
Technique Amino
Remarks Codons 7/8 (+G); GAG AAG(Glu;Lys)->GAG G AAG beta0
# Reported 1
Disease Mesh ID -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBB:c.24_25insG   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein -
DB-ID HBB_01881
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.24_25insG - - HBB_01881 HbVar