IthaID: 59



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 6-10 (-13 bp) HGVS Name: HBB:c.21_33delGGAGAAGTCTGCC
Hb Name: N/A Protein Info: N/A

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: 70615
Size: 13 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Sri Lankan
Molecular mechanism: Altered secondary structure
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Frequencies

Publications / Origin

  1. Fisher CA, Premawardhena A, de Silva S, Perera G, Rajapaksa S, Olivieri NA, Old JM, Weatherall DJ, , The molecular basis for the thalassaemias in Sri Lanka., British journal of haematology, 121(4), 662-71, 2003 PubMed
Created on 2010-06-16 16:13:14, Last reviewed on 2021-12-16 15:16:32 (Show full history)

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