IthaID: 60



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 7 GAG>TAG HGVS Name: HBB:c.22G>T
Hb Name: N/A Protein Info: β 7 Glu->Stop

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70616
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Nonsense codon (Translation)
Ethnic Origin: English, Albanian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Thein SL, The molecular basis of β-thalassemia., Cold Spring Harb Perspect Med , 3(5), a011700, 2013 PubMed
  2. Zarkada E, Yfanti E, Teli A, Balassopoulou A, Sinopoulou K, Theodoridou S, Rare Pathogenic β-Thalassemia Mutation, Codon 7 (AG>AG) (: c.22G>T). Report of the First Two Cases in Albanian Immigrants of Northern Greece., Hemoglobin, 2022 PubMed
Created on 2010-06-16 16:13:14, Last reviewed on 2022-09-12 11:59:03 (Show full history)

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