LOVD - Variant listings for HBA1

About this overview [Show]

Patient data (#0000034)
Disease Hb variants
Reference (OMIM 0096);dbSNP;dbSNP;Cooper MR et al.;Kraus LM et al.;
Template Protein
Technique Amino
Remarks Hb Memphis
# Reported 1
Ethnic origin -
Disease Mesh ID D006455
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBA1:c.70G>C   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Glu24Gln
Re-site -
Frequency -
DB-ID HBA1_00034
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.70G>C - p.Glu24Gln - - HBA1_00034 HbVar