LOVD - Variant listings for HBA2

About this overview [Show]

Patient data (#0002610)
Disease Hb variants
Reference IGLESIAS Cruz Elena (0000-0002-6896-0564)
Template Protein
Technique Amino
Remarks Hb Basurto
# Reported 1
Ethnic origin -
Disease Mesh ID -
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBA2:c.88C>A
RNA change -
Protein p.Leu30Met
Re-site -
Frequency -
DB-ID HBA2_02282
HbVar link -

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.88C>A - p.Leu30Met - - HBA2_02282 -

  Powered by LOVD v.2.0 Build 38
Enabled modules: mutalyzer, recaptcha, showmaxdbid
©2004-2019 Leiden University Medical Center