IthaID: 3133



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: IVS II-1 G>A and CD 91 CTG>TTG [Leu>Leu] HGVS Name: HBB:c.[315+1G>A; 274C>T]
Hb Name: N/A Protein Info: N/A

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70998 or 71040
Size: 1 bp or 1 bp
Located at: β
Specific Location: Exon 2, Intron 2

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Splice junction (mRNA Processing)
Ethnic Origin: Korean
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Frequencies

Publications / Origin

  1. Park SS, Lee YJ, Kim JY, Joo SI, Hattori Y, Ohba Y, Cho HI, Beta-thalassemia in the Korean population., Hemoglobin , 26(2), 135-45, 2002 PubMed
Created on 2016-10-24 15:26:34, Last reviewed on (Show full history)

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