LOVD - Variant listings for HBB

About this overview [Show]

Patient data (#0001367)
Disease Hb variants
Reference dbSNP;Arsenio R; Dagna-Bricarelli F; Deiana F; Devoto G; Ivaldi G; Leone D; Parastatidou S; Tanca D; HbVar A-2391-2010;
Template DNA
Technique SEQ
Remarks Hb Lavagna
# Reported 1
Disease Mesh ID D006455

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBB:c.20A>G   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Glu7Gly
DB-ID HBB_01367
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.20A>G - p.Glu7Gly HBB_01367 HbVar