LOVD - Variant listings for HBG1

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Patient data (#0002506)
Disease Hb variants
Reference James D. Hoyer (F-7016-2010)
Template DNA
Technique SEQ
Remarks Hb F-Streeterville
# Reported 1
Ethnic origin -
Disease Mesh ID -
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 3
DNA change HBG1:c.420T>G
RNA change -
Protein p.Ser140Arg
Re-site -
Frequency -
DB-ID HBG1_02178
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 3 HBG1:c.420T>G - p.Ser140Arg - - HBG1_02178 -

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