LOVD - Variant listings for HBD

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Patient data (#0002066)
Disease Hb variants
Reference FRANCINA A.; JOLY P. (E-4142-2010);HbVar A-2391-2010;
Template Protein
Technique Amino
Remarks Hb A2-Saint-Etienne
# Reported 1
Ethnic origin -
Disease Mesh ID D006455
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBD:c.44T>C   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Leu15Pro
Re-site -
Frequency -
DB-ID HBD_01770
HbVar link HbVar

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.44T>C - p.Leu15Pro - - HBD_01770 HbVar