LOVD - Variant listings for HBA1

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Patient data (#0000020)
Disease Thalassemia
Reference (OMIM 0031);dbSNP;dbSNP;dbSNP;dbSNP;SwissVar VAR_002731;Giordano PC (A-9724-2010);Harteveld CL et al.;
Template Protein
Technique Amino
Remarks Hb Evanston
# Reported 1
Ethnic origin -
Disease Mesh ID C039216
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBA1:c.[43T>A or 43T>C ]
RNA change -
Protein p.Trp15Arg
Re-site -
Frequency -
DB-ID HBA1_00020
HbVar link HbVar

1 entry in HBA1

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 HBA1:c.[43T>A or 43T>C ] - p.Trp15Arg - - HBA1_00020 HbVar