IthaID: 207



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: IVS II 4/5 -AG HGVS Name: NG_000007.3:g.71043_71044delAG
Hb Name: N/A Protein Info: β nts 499 - 500 deleted

Context nucleotide sequence:
CGTGGATCCTGAGAACTTCAGGGTG [-/AG] TCTATGGGACGCTTGATGTTTTCTT (Strand: -)

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71043
Size: 2 bp
Located at: β
Specific Location: Intron 2

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Portuguese
Molecular mechanism: N/A
Inheritance: Dominant
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Frequencies

Publications / Origin

  1. Faustino P, Osório-Almeida L, Barbot J, Espírito-Santo D, Gonçalves J, Romão L, Martins MC, Marques MM, Lavinha J, Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of beta-thalassaemia in the Portuguese population., Human genetics, 89(5), 573-6, 1992 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2018-04-25 12:10:28 (Show full history)

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