LOVD - Variant listings for HBA2

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Patient data (#0002344)
Disease Hb variants
Reference de la Fuente-Gonzalo F et al.;
Template Protein
Technique Amino
Remarks Hb Valdecilla
# Reported 1
Ethnic origin -
Disease Mesh ID -
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBA2:c.3G>T
RNA change -
Protein p.Met1Ile
Re-site -
Frequency -
DB-ID HBA2_02017
HbVar link -

1 entry in HBA2

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 HBA2:c.3G>T - p.Met1Ile - - HBA2_02017 -

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