LOVD - Variant listings for HBA2

About this overview [Show]

Patient data (#0002162)
Disease alpha-2 thal
Reference KATTAMIS A.; TRAEGER-SYNODINOS J.; HbVar A-2391-2010;
Template Protein
Technique Amino
Remarks Hb Souli
# 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 HBA2:c.40_45delGCCTGG   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein -
Re-site -
Frequency -
DB-ID HBA2_01847
HbVar link HbVar

1 entry in HBA2

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 HBA2:c.40_45delGCCTGG - - - - HBA2_01847 HbVar