LOVD - Variant listings for HBB

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Patient data (#0001339)
Disease rare variant
Reference dbSNP;Seelig HP; Wiemann C (B-1746-2010);HbVar A-2391-2010;Ropero P et al.;
Template DNA
Technique SEQ
Remarks 5'UTR; +20 (C>T)
# Reported 1
Disease Mesh ID -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBB:c.-31C>T   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein -
DB-ID HBB_01339
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.-31C>T - - HBB_01339 HbVar