LOVD - Variant listings for HBB

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Patient data (#0000679)
Disease Hb variants
Reference (OMIM 0038);dbSNP;SwissVar VAR_002864;
Template Protein
Technique Amino
Remarks Hb C
# Reported 1
Disease Mesh ID D006444

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBB:c.19G>A   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Glu7Lys
DB-ID HBB_00679
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.19G>A - p.Glu7Lys HBB_00679 HbVar