LOVD - Variant listings for HBG1

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Patient data (#0002292)
Disease rare variant
Reference Akinbami AO et al.;
Template Protein
Technique Amino
Remarks AGamma -61C>G
# Reported 1
Ethnic origin -
Disease Mesh ID -
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably no pathogenicity
Concluded pathogenicity Unknown
Exon 1
DNA change HBG1:c.-114C>G
RNA change -
Protein -
Re-site -
Frequency -
DB-ID HBG1_01966
HbVar link -

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.-114C>G - - - - HBG1_01966 -

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