IthaID: 311


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --FIL HGVS Name: NC_000016.10:g.151641_182316del
Hb Name: N/A Protein Info: N/A

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External 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: 12504
Size: 30.675 kb
Deletion involves: ζ, α2, α1

Other details

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

In silico pathogenicity prediction

Frequencies

Publications / Origin

  1. Fischel-Ghodsian N, Vickers MA, Seip M, Winichagoon P, Higgs DR, Characterization of two deletions that remove the entire human zeta-alpha globin gene complex (- -THAI and - -FIL)., British journal of haematology, 70(2), 233-8, 1988
  2. Eng B, Patterson M, Borys S, Chui DH, Waye JS, PCR-based diagnosis of the Filipino (--(FIL)) and Thai (--(THAI)) alpha-thalassemia-1 deletions., Am. J. Hematol. , 63(1), 54-6, 2000
Created on 2010-06-16 16:13:15, Last reviewed on 2020-07-07 16:07:54 (Show full history)

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