LOVD - Variant listings for HBB

About this overview [Show]

Patient data (#0001099)
Disease beta0 thal
Reference (OMIM 0344);dbSNP;Koo MS et al.;Lam VM et al.;
Template DNA
Technique SEQ
Remarks Initiation codon ATG->AGG beta0
# Reported 1
Disease Mesh ID D013789

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBB:c.2T>G   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Met1Arg
DB-ID HBB_01099
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.2T>G - p.Met1Arg HBB_01099 HbVar