LOVD - Variant listings for HBG1

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Patient data (#0000647)
Disease Hb variants
Reference dbSNP;dbSNP;Loukopoulos D et al.;Vella F et al.;
Template Protein
Technique Amino
Remarks Hb F-Alexandra
# Reported 1
Ethnic origin -
Disease Mesh ID D006455
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBG1:c.38C>A   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Thr13Lys
Re-site -
Frequency -
DB-ID HBG1_00647
HbVar link HbVar

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 1 HBG1:c.38C>A - p.Thr13Lys - - HBG1_00647 HbVar