LOVD - Variant listings for HBA1

About this overview [Show]

Patient data (#0002097)
Disease alpha-1 thal
Reference Zhao P et al.;
Template Protein
Technique Amino
Remarks Alpha-3.7KbAllele:c.94_95delAG
# Reported 1
Ethnic origin -
Disease Mesh ID D013789
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBA1:c.94_95delAG   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein -
Re-site -
Frequency -
DB-ID HBA1_01789
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.94_95delAG - - - - HBA1_01789 HbVar