LOVD - Variant listings for HBB

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Patient data (#0002371)
Disease Hb variants
Reference Anping XU (K-9299-2018)
Template Protein
Technique Amino
Remarks Hb Hengyang
# Reported 1
Ethnic origin -
Disease Mesh ID -
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBB:c.29C>T
RNA change -
Protein p.Ser10Phe
DB-ID HBB_02044
HbVar link -
Frequency -
Re-site -

1 entry in HBB

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
DB-ID Descending
Ascending
HbVar link Descending
Ascending
Frequency Descending
Ascending
Re-site Descending
Ascending
+?/? Unknown 1 HBB:c.29C>T - p.Ser10Phe HBB_02044 - - -

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