IthaID: 2252


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --BR HGVS Name: NC_000016.10:g.11555_229482del
Hb Name: N/A Protein Info: N/A

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: N/A
Deletion involves: HS40, ζ, α2, α1

Other details

Type of Mutation: Deletion
Ethnic Origin: South European, Spanish
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Villegas A, Calero F, Vickers MA, Ayyub H, Higgs DR, Alpha thalassaemia in two Spanish families., Eur. J. Haematol. , 44(2), 109-15, 1990
  2. Harris PC, Barton NJ, Higgs DR, Reeders ST, Wilkie AO, A long-range restriction map between the alpha-globin complex and a marker closely linked to the polycystic kidney disease 1 (PKD1) locus., Genomics , 7(2), 195-206, 1990
  3. Horsley SW, Daniels RJ, Anguita E, Raynham HA, Peden JF, Villegas A, Vickers MA, Green S, Waye JS, Chui DH, Ayyub H, MacCarthy AB, Buckle VJ, Gibbons RJ, Kearney L, Higgs DR, Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects., Eur. J. Hum. Genet. , 9(3), 217-25, 2001
Created on 2013-10-03 17:47:28, Last reviewed on 2020-02-26 15:48:49 (Show full history)

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