LOVD - Variant listings for HBD

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Patient data (#0002602)
Disease Hb variants
Reference P. JOLY (E-4142-2010)
Template Protein
Technique Amino
Remarks Hb A2-Moyen-Orient
# Reported 1
Ethnic origin -
Disease Mesh ID -
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 2
DNA change HBD:c.230C>A
RNA change -
Protein p.Ala77Asp
Re-site -
Frequency -
DB-ID HBD_02274
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 2 HBD:c.230C>A - p.Ala77Asp - - HBD_02274 -

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