LOVD - Variant listings for HBD

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Patient data (#0002581)
Disease Hb variants
Reference Britta Landin; HbVar A-2391-2010;
Template Protein
Technique Amino
Remarks Hb A2-Stockholm
# Reported 1
Ethnic origin -
Disease Mesh ID -
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBD:c.47G>T
RNA change -
Protein p.Trp16Leu
Re-site -
Frequency -
DB-ID HBD_02253
HbVar link -

1 entry in HBD

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Re-site Descending
Ascending
Frequency Descending
Ascending
DB-ID Descending
Ascending
HbVar link Descending
Ascending
+?/? Unknown 1 HBD:c.47G>T - p.Trp16Leu - - HBD_02253 -

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