LOVD - Variant listings for HBG1

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Patient data (#0000634)
Disease Hb variants
Reference (OMIM 0033);dbSNP;SwissVar VAR_003145;Huisman TH et al.;
Template Protein
Technique Amino
Remarks Hb F-Woodstock
# Reported 1
Ethnic origin -
Disease Mesh ID D006455
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 2
DNA change HBG1:c.122G>A   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Arg41Lys
Re-site -
Frequency -
DB-ID HBG1_00634
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.122G>A - p.Arg41Lys - - HBG1_00634 HbVar