LOVD - Variant listings for HBB

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Patient data (#0001089)
Disease beta+ thal
Reference (OMIM 0379);dbSNP;Gonzalez-Redondo JM et al.;Atweh GF et al.;Huisman TH et al.;Gonzalez-Redondo JM et al.;
Template DNA
Technique SEQ
Remarks -29 (A->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.-79A>G   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein -
DB-ID HBB_01089
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.-79A>G - - HBB_01089 HbVar