IthaID: 206



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: IVS II-2/3 +11 bp, -2 bp HGVS Name: HBB:c.315+2_315+3delinsACGTTCTCTGA
Hb Name: N/A Protein Info: β nts 497 - 498 deleted AND nts ACGTTCTCTGA inserted between nts 496 and 499 of β

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71041
Size: 9 bp
Located at: β
Specific Location: Intron 2

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:Dominant
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Iranian
Inheritance: Dominant
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Frequencies

Publications / Origin

  1. Hoyle C, Kaeda J, Leslie J, Luzzatto L, Acquired beta thalassaemia trait in MDS., British journal of haematology, 79(1), 116-7, 1991 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-06-04 12:29:55 (Show full history)

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