LOVD - Variant listings for HBG2

About this overview [Show]

Patient data (#0000618)
Disease Hb variants
Reference dbSNP;Wajcman H (D-2111-2010);Wajcman H et al.;
Template Protein
Technique Amino
Remarks Hb F-Coigneres
# Reported 1
Ethnic origin -
Disease Mesh ID C473012
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 2
DNA change HBG2:c.226A>G   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Ile76Val
Re-site -
Frequency -
DB-ID HBG2_00618
HbVar link HbVar

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 2 HBG2:c.226A>G - p.Ile76Val - - HBG2_00618 HbVar