IthaID: 292
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Turk | HGVS Name: | NG_000007.3:g.[52524_60162del;66278_73952del] |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as: ~7.6 kb deletion
Comments: Restriction endonuclease analyses revealed two large deletions removing the entire β- and pseudo β-globin genes but leaving intact δ-globin gene. The first deletion (~7.6 Kb) extends from a point 1.5 Κb on the 3’ side of δ-globin gene to about 1.8 Κb on the 3‘side of the β-globin gene. The other deletion (~7.6 Kb) extends from a point 1.5 Κb on the 5’ side of the pseudo β-globin gene to about 4.5 Κb on the 3’ side of the pseudo β-globin gene. The two deletions found in homozygosity in a 2.5-month-old infant presented with β-thalassaemia major.
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: | 66278 |
| Size: | 7.674 kb |
| Deletion involves: | β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Turkish |
| 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
- Oner C, Oner R, Gürgey A, Altay C, A new Turkish type of beta-thalassaemia major with homozygosity for two non-consecutive 7.6 kb deletions of the psi beta and beta genes and an intact delta gene., British journal of haematology, 89(2), 306-12, 1995 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2022-02-21 10:01:17 (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. |
| 3 | 2022-02-08 15:47:25 | The IthaGenes Curation Team | Reviewed. HGVS name and comment added. |
| 4 | 2022-02-21 10:01:17 | The IthaGenes Curation Team | Reviewed. Chromosome location corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07