LOVD - Variant listings for HBB

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Patient data (#0001351)
Disease beta (0 or + unclear) thal
Reference dbSNP;Eng B; Waye JS (E-4075-2010);HbVar A-2391-2010;Eng B et al.;
Template DNA
Technique SEQ
Remarks -25 (G>C)
# Reported 1
Disease Mesh ID D013789

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBB:c.-75G>C   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein -
DB-ID HBB_01351
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.-75G>C - - HBB_01351 HbVar