IthaID: 3293
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 97 kb deletion | HGVS Name: | NC_000016.10:g.56407_153678del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion spans about 97 kb (positions 46407-143677 according to the UCSC Genome Browser, March 2006) removing the HS-40 region but leaving the α-globin gene cluster intact.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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: | 97.271 kb |
| Deletion involves: | HS40 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Brazilian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Mota NO, Kimura EM, Ferreira RD, Pedroso GA, Albuquerque DM, Ribeiro DM, Santos MNN, Bittar CM, Costa FF, Sonati MF, Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients., Genet. Mol. Biol. , 40(4), 768-773, 2017
Created on 2018-01-09 18:50:14,
Last reviewed on 2018-01-10 17:06:06 (Show full history)
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