LOVD - Variant listings for HBG1

About this overview [Show]

Patient data (#0002359)
Disease Hb variants
Reference Patel N et al.;
Template Protein
Technique Amino
Remarks Hb F-Sykesville
# Reported 1
Ethnic origin -
Disease Mesh ID -
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 3
DNA change HBG1:c.340G>A
RNA change -
Protein p.Val114Ile
Re-site -
Frequency -
DB-ID HBG1_02032
HbVar link -

1 entry in HBG1

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 3 HBG1:c.340G>A - p.Val114Ile - - HBG1_02032 -

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