LOVD - Variant listings for HBB

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Patient data (#0001075)
Disease beta+ thal
Reference (OMIM 0371);dbSNP;Rosatelli MC et al.;Divoky V et al.;Kazazian HH Jr et al.;
Template DNA
Technique SEQ
Remarks -92 (C->T) beta+ (mild)
# 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.-142C>T   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein -
DB-ID HBB_01075
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.-142C>T - - HBB_01075 HbVar - -