LOVD - Variant listings for HBB

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Patient data (#0002312)
Disease rare variant
Reference Vinciguerra M et al.;
Template Protein
Technique Amino
Remarks Beta IVS-I-108 (T->C)
# Reported 1
Ethnic origin -
Disease Mesh ID -
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably no pathogenicity
Concluded pathogenicity Unknown
Exon 2
DNA change HBB:c.93-23T>C
RNA change -
Protein -
DB-ID HBB_01985
HbVar link -
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 2 HBB:c.93-23T>C - - HBB_01985 - - -

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