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
- 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
- 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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