IthaID: 296
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Dutch | HGVS Name: | NG_000007.3:g.68071_80682del12612 |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as: 12620 bp deletion
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: | 68071 |
| Size: | 12.62 kb |
| Deletion involves: | β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Dutch |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Schokker RC, Went LN, Bok J, A new genetic variant of beta-thalassaemia., Nature, 209(5018), 44-6, 1966 PubMed
- Gilman JG, Huisman TH, Abels J, Dutch beta 0-thalassaemia: a 10 kilobase DNA deletion associated with significant gamma-chain production., British journal of haematology, 56(2), 339-48, 1984 PubMed
- Gilman JG, The 12.6 kilobase DNA deletion in Dutch beta zero-thalassaemia., British journal of haematology, 67(3), 369-72, 1987 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2013-10-15 17:28:32 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-04-24 11:43:02