LOVD - Variant listings for HBD

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Patient data (#0001946)
Disease Hb variants
Reference dbSNP;JOLY Philippe (E-4142-2010);Old J (E-5816-2010);
Template Protein
Technique Amino
Remarks Hb A2 Saint-Denis
# 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 HBD:c.244C>T   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Leu82Phe
Re-site -
Frequency -
DB-ID HBD_01684
HbVar link HbVar

1 entry in HBD

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 HBD:c.244C>T - p.Leu82Phe - - HBD_01684 HbVar