LOVD - Variant listings for HBA1

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Patient data (#0002291)
Disease alpha-2 thal
Reference Waye JS et al.;
Template Protein
Technique Amino
Remarks Alpha1_Initiation codon_ATG>AAG
# Reported 1
Ethnic origin -
Disease Mesh ID -
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBA1:c.2T>A
RNA change -
Protein p.Met1Lys
Re-site -
Frequency -
DB-ID HBA1_01965
HbVar link -

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.2T>A - p.Met1Lys - - HBA1_01965 -