LOVD - Variant listings for HBB

About this overview [Show]

Patient data (#0001080)
Disease beta+ thal
Reference (OMIM 0374);dbSNP;Ilhan O et al.;Gilman JG et al.;Camaschella C et al.;Diaz-Chico JC et al.;
Template DNA
Technique SEQ
Remarks -87 (C->G) beta+
# Reported 1
Disease Mesh ID D013789

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBB:c.-137C>G   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein -
DB-ID HBB_01080
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.-137C>G - - HBB_01080 HbVar