LOVD - Variant listings for HBD

About this overview [Show]

Patient data (#0002397)
Disease delta0 thal
Reference SALLER E.; HbVar A-2391-2010;
Template Protein
Technique Amino
Remarks delta(0) Cys94*
# Reported 1
Ethnic origin -
Disease Mesh ID -
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 2
DNA change HBD:c.282_283delTG
RNA change -
Protein -
Re-site -
Frequency -
DB-ID HBD_02069
HbVar link -

1 entry in HBD

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 2 HBD:c.282_283delTG - - - - HBD_02069 -

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