LOVD - Variant listings for HBB

About this overview [Show]

Patient data (#0001110)
Disease beta+ thal
Reference dbSNP;Barnaby Clark (G-6612-2010);Matthew Oakley (G-8434-2014);Pawar AR et al.;
Template Protein
Technique Amino
Remarks Codon 10 (C->A); GCC(Ala)->GCA(Ala) beta+
# Reported 1
Disease Mesh ID D013789

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBB:c.33C>A   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Ala11Ala
DB-ID HBB_01110
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.33C>A - p.Ala11Ala HBB_01110 HbVar