LOVD - Variant listings for HBA1

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Patient data (#0000023)
Disease Hb variants
Reference (OMIM 0010);dbSNP;dbSNP;dbSNP;dbSNP;SwissVar VAR_002734;Liang CC et al.;
Template Protein
Technique Amino
Remarks Hb Beijing
# Reported 1
Ethnic origin -
Disease Mesh ID C037202
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBA1:c.[51G>C or 51G>T ]
RNA change -
Protein p.Lys17Asn
Re-site -
Frequency -
DB-ID HBA1_00023
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.[51G>C or 51G>T ] - p.Lys17Asn - - HBA1_00023 HbVar