LOVD - Variant listings for HBB

Warning Please note that this overview may not be complete, as variants with unknown effect to the phenotype are left out.

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2 entries
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Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

RNA change Hide RNA change column Descending
Ascending

Protein Hide Protein column Descending
Ascending

DB-ID Hide DB-ID column Descending
Ascending

HbVar link Hide HbVar link column Descending
Ascending
2 HBB:c.107A>G - p.Tyr36Cys HBB_01984 -
2 HBB:c.93-23T>C - - HBB_01985 -
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Legend: [ HBB full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. HBB DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. HbVar link: HbVar link