LOVD - Variant listings for HBB

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Patient data (#0001096)
Disease beta+ thal
Reference dbSNP;Huang SZ et al.;Frances V et al.;
Template DNA
Technique SEQ
Remarks 5'UTR; +43 to +40 (-AAAC) beta+
# Reported 1
Disease Mesh ID D013789

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBB:c.-11_-8delAAAC   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein -
DB-ID HBB_01096
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.-11_-8delAAAC - - HBB_01096 HbVar