LOVD - Variant listings for HBB

About this overview [Show]

Patient data (#0000681)
Disease Hb variants
Reference (OMIM 0166);dbSNP;SwissVar VAR_002865;Harano T et al.;
Template Protein
Technique Amino
Remarks Hb Machida
# Reported 1
Disease Mesh ID C036256

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBB:c.19G>C   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Glu7Gln
DB-ID HBB_00681
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>C - p.Glu7Gln HBB_00681 HbVar