LOVD - Variant listings for HBG2

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Patient data (#0002500)
Disease Hb variants
Reference James D. Hoyer (F-7016-2010)
Template DNA
Technique SEQ
Remarks Hb F-Wyandotte
# Reported 1
Ethnic origin -
Disease Mesh ID -
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 3
DNA change HBG2:c.422C>A
RNA change -
Protein p.Ala141Asp
Re-site -
Frequency -
DB-ID HBG2_02172
HbVar link -

1 entry in HBG2

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 HBG2:c.422C>A - p.Ala141Asp - - HBG2_02172 -

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