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
Publications / Origin
- Schokker RC, Went LN, Bok J, A new genetic variant of beta-thalassaemia., Nature, 209(5018), 44-6, 1966
- 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
- Gilman JG, The 12.6 kilobase DNA deletion in Dutch beta zero-thalassaemia., British journal of haematology, 67(3), 369-72, 1987
Created on 2010-06-16 16:13:15,
Last reviewed on 2013-10-15 17:28:32 (Show full history)
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