LOVD - Variant listings for HBG2

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Patient data (#0002499)
Disease Thalassemia
Reference Gilman JG et al.;Serge Pissard et al.;Labie D et al.;
Template Protein
Technique Amino
Remarks Ggamma -158C>T
# Reported 1
Ethnic origin -
Disease Mesh ID -
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBG2:c.-211C>T
RNA change -
Protein -
Re-site -
Frequency -
DB-ID HBG2_02171
HbVar link -

1 entry in HBG2

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 HBG2:c.-211C>T - - - - HBG2_02171 -