LOVD - Variant listings for HBB

About this overview [Show]

Patient data (#0000678)
Disease Hb variants
Reference (OMIM 0243);dbSNP;SwissVar VAR_002863;
Template Protein
Technique Amino
Remarks Hb S
# Reported 1
Ethnic origin -
Disease Mesh ID D006455
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBB:c.20A>T   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Glu7Val
DB-ID HBB_00678
HbVar link HbVar
Frequency -
Re-site -

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
Frequency Descending
Ascending
Re-site Descending
Ascending
+?/? Unknown 1 HBB:c.20A>T - p.Glu7Val HBB_00678 HbVar - -