IthaID: 206

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: IVS II-2/3 (-2 bp, +11 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

Also known as: IVS II-2,3 (+11/-2)

Comments: Reported in a heterozygous state.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: N/A


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

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Splice junction (mRNA Processing)
Ethnic Origin: Iranian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Najmabadi H, Pourfathollah AA, Neishabury M, Sahebjam F, Krugluger W, Oberkanins C, Rare and unexpected mutations among Iranian beta-thalassemia patients and prenatal samples discovered by reverse-hybridization and DNA sequencing., Haematologica, 87(10), 1113-4, 2002 PubMed
  2. Derakhshandeh-Peykar P, Akhavan-Niaki H, Tamaddoni A, Ghawidel-Parsa S, Naieni KH, Rahmani M, Babrzadeh F, Dilmaghani-Zadeh M, Farhud DD, Distribution of beta-thalassemia mutations in the northern provinces of Iran., Hemoglobin, 31(3), 351-6, 2007 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2023-06-29 14:54:44 (Show full history)

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