LOVD - Variant listings for HBB

About this overview [Show]

Patient data (#0001087)
Disease beta+ thal
Reference (OMIM 0377);dbSNP;Fattoum S et al.;Fei YJ et al.;
Template DNA
Technique SEQ
Remarks -30 (T->A) beta+
# Reported 1
Ethnic origin -
Disease Mesh ID D013789
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBB:c.-80T>A   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein -
DB-ID HBB_01087
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.-80T>A - - HBB_01087 HbVar - -