IthaID: 2265

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: --PV HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as:

External Links

No available links


Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 1620 kb
Deletion involves: HS40, ζ, α2, α1


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

Other details

Type of Mutation: Deletion
Ethnic Origin: N/A
Inheritance: Recessive
DNA Breakpoint Determined: No

Sequence Viewer

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Publications / Origin

  1. Kriek M, White SJ, Bouma MC, Dauwerse HG, Hansson KB, Nijhuis JV, Bakker B, van Ommen GJ, den Dunnen JT, Breuning MH, Genomic imbalances in mental retardation., J. Med. Genet. , 41(4), 249-55, 2004 PubMed
  2. Harteveld CL, Kriek M, Bijlsma EK, Erjavec Z, Balak D, Phylipsen M, Voskamp A, di Capua E, White SJ, Giordano PC, Refinement of the genetic cause of ATR-16., Hum. Genet. , 122(3), 283-92, 2007 PubMed
Created on 2013-10-04 10:55:38, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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