LOVD - Variant listings for HBB

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Patient data (#0001914)
Disease Hb variants
Reference dbSNP;Old J (E-5816-2010);
Template DNA
Technique SEQ
Remarks Hb Benin City
# Reported 1
Disease Mesh ID D006455

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBB:c.13A>C   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Thr5Pro
DB-ID HBB_01652
HbVar link HbVar

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
+?/? Unknown 1 HBB:c.13A>C - p.Thr5Pro HBB_01652 HbVar