IthaID: 2267


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --FT HGVS Name: NC_000016.10:g.(?_55799)_(1857769_1890275)del
Hb Name: N/A Protein Info: N/A

Also known as:

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: 1900 kb
Deletion involves: HS40, ζ, α2, α1

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. 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
Created on 2013-10-04 10:58:04, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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