LOVD - Variant listings for HBG1

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Patient data (#0000639)
Disease Hb variants
Reference (OMIM 0018);SwissVar VAR_003161;Huisman TH et al.;Huisman TH et al.;Grifoni V et al.;
Template Protein
Technique Amino
Remarks Hb F-Sardinia (AgammaT)
# Reported 1
Disease Mesh ID C040337

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 2
DNA change U01317.1(HBG1):c.227T>C
RNA change -
Protein p.Ile76Thr
Re-site -
Frequency -
DB-ID HBG1_00639
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 2 U01317.1(HBG1):c.227T>C - p.Ile76Thr - - HBG1_00639 HbVar