LOVD - Variant listings for HBB

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Patient data (#0001871)
Disease Hb variants
Reference dbSNP;Couprie N; Francina A (E-3974-2010);Griffon C; Jolly P; HbVar A-2391-2010;Joly P et al.;
Template DNA
Technique SEQ
Remarks Hb Aix-les-Bains
# Reported 1
Disease Mesh ID D006455

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBB:c.17C>T   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Pro6Leu
DB-ID HBB_01613
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.17C>T - p.Pro6Leu HBB_01613 HbVar