LOVD - Variant listings for HBB

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Patient data (#0000683)
Disease Hb variants
Reference (OMIM 0263);dbSNP;SwissVar VAR_002867;Blackwell RQ et al.;
Template Protein
Technique Amino
Remarks Hb G-Siriraj
# Reported 1
Disease Mesh ID C048606

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBB:c.22G>A   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Glu8Lys
DB-ID HBB_00683
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>A - p.Glu8Lys HBB_00683 HbVar