IthaID: 2184


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 6-14 (-26 bp) HGVS Name: HBB:c.20_45del26bp
Hb Name: N/A Protein Info: β 6-14 (-AGGAGAAGTCTGCCGTTACTGCCCTG); modified C-terminal sequence: (6)Val-Gly-Gln-Gly-Glu-Arg-Gly-(13)COOH

Also known as: 26 bp deletion

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: 70613
Size: 26 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: Asian Indian
Molecular mechanism: Altered secondary structure
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Edison ES, Venkatesan RS, Govindanattar SD, George B, Shaji RV, A novel 26 bp deletion [HBB: c.20_45del26bp] in exon 1 of the β-globin gene causing β-thalassemia major., Hemoglobin , 36(1), 98-102, 2012
Created on 2013-09-30 16:34:47, Last reviewed on 2018-04-17 09:26:30 (Show full history)

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