IthaID: 304
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -α3.5 | HGVS Name: | NG_000006.1:g.37464_40964del3501 |
| 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: | α⁺ |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37464 |
| Size: | 3.501 kb |
| Deletion involves: | α1 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Indian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Kulozik AE, Kar BC, Serjeant GR, Serjeant BE, Weatherall DJ, The molecular basis of alpha thalassemia in India. Its interaction with the sickle cell gene., Blood, 71(2), 467-72, 1988
Created on 2010-06-16 16:13:15,
Last reviewed on 2013-10-15 17:28:32 (Show full history)
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