LOVD - Variant listings for HBB

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Patient data (#0002018)
Disease Hb variants
Reference dbSNP;Nardi M (B-5642-2011);Edison ES et al.;
Template Protein
Technique Amino
Remarks Hb Bellevue III
# Reported 1
Disease Mesh ID D006455

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBB:c.22G>C   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Glu8Gln
DB-ID HBB_01738
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.22G>C - p.Glu8Gln HBB_01738 HbVar