IthaID: 282
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 105 bp deletion | HGVS Name: | HBB:c.-74_31del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70521 |
| Size: | 105 bp |
| Deletion involves: | β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Thai |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Nopparatana C, Panich V, Saechan V, Sriroongrueng V, Nopparatana C, Rungjeadpha J, Pornpatkul M, Laosombat V, Fukumaki Y, The spectrum of beta-thalassemia mutations in southern Thailand., The Southeast Asian journal of tropical medicine and public health, 26(0), 229-34, 1995
Created on 2010-06-16 16:13:15,
Last reviewed on 2013-10-15 17:28:32 (Show full history)
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