IthaID: 2963

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 7 GAG>GTG [Glu>Val] HGVS Name: HBB:c.23A>T
Hb Name: Hb Haaglanden Protein Info: β 7(A4) Glu>Val

Protein sequence:

Also known as:

Comments: The amino acid substitution of this variant is identical to that of Hb S, but shifted of a single amino-acid position. It is negative on both the solubility and sickle tests.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:Silent Hb
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70617
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: North African
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Harteveld CL, Ponjee G, Bakker-Verweij M, Arkesteijn SG, Phylipsen M, Giordano PC, Hb Haaglanden: a new nonsickling β7Glu>Val variant. Consequences for basic diagnostics, screening, and risk assessment when dealing with HbS-like variants., Int J Lab Hematol , 34(5), 551-5, 2012 PubMed
Created on 2016-08-23 14:22:52, Last reviewed on 2016-08-24 15:01:52 (Show full history)

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