IthaID: 2382

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 7 GAG>GAT [Glu>Asp] HGVS Name: HBB:c.24G>T
Hb Name: Hb Stockholm Protein Info: β 7(A4) Glu>Asp

Context nucleotide sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70618
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: N/A
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Bergman AC, Beshara S, Byman I, Karim R, Landin B, A new beta-chain variant: Hb stockholm [beta 7(A4)GluAsp] causes falsely low Hb A(1c)., Hemoglobin , 33(2), 137-42, 2009
Created on 2014-05-26 10:45:50, Last reviewed on (Show full history)

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