LOVD - Variant listings for HBG1

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Patient data (#0000638)
Disease Hb variants
Reference (OMIM 0023);dbSNP;SwissVar VAR_003160;Ma M et al.;
Template Protein
Technique Amino
Remarks Hb F-Xin-Su
# Reported 1
Disease Mesh ID C054744

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 2
DNA change HBG1:c.220G>C   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Asp74His
Re-site -
Frequency -
DB-ID HBG1_00638
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 HBG1:c.220G>C - p.Asp74His - - HBG1_00638 HbVar