IthaID: 3393
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 3.5 kb deletion | HGVS Name: | NC_000011.10:g.5224302_5227791del3490bp |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as: Thai, 3485 bp deletion
Comments: The deletion spans approximately 3.5 kb on the β-globin gene cluster, removing the β-globin gene promoter and the whole β-globin gene. The 5' and 3' breakpoints are located at positions 5224302 and 5227791, respectively (GRCh37/hg19). Co-inheritance with a β+ mutation led to a severe transfusion-dependent anemia.
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: | N/A |
| Size: | 3.5 kb |
| Deletion involves: | β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Thai, Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
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
Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI.
Therefore, IthaGenes has no responsibility over any temporary unavailability of the service.
In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
Publications / Origin
- Sanguansermsri T, Pape M, Laig M, Hundrieser J, Flatz G, Beta zero-thalassemia in a Thai family is caused by a 3.4 kb deletion including the entire beta-globin gene., Hemoglobin, 14(2), 157-68, 1990 PubMed
- Lynch JR, Brown JM, Best S, Jennings MW, Weatherall DJ, Characterization of the breakpoint of a 3.5-kb deletion of the beta-globin gene., Genomics, 10(2), 509-11, 1991 PubMed
- He S, Qin Q, Lin L, Zuo Y, Chen Q, Wei H, Zheng C, Chen B, Qiu X, First Identification of the 3.5 kb Deletion (NC_000011.10: g.5224302-5227791del3490bp) on the β-Globin Gene Cluster in a Chinese Family., Hemoglobin, 42(4), 272-275, 2018 PubMed
Created on 2019-04-08 16:09:58,
Last reviewed on 2020-01-29 08:51:49 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2019-04-08 16:09:58 | The IthaGenes Curation Team | Created |
| 2 | 2019-04-08 16:14:29 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2019-04-08 16:15:18 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2019-04-08 16:16:07 | The IthaGenes Curation Team | Reviewed. |
| 5 | 2019-04-08 16:17:22 | The IthaGenes Curation Team | Reviewed. |
| 6 | 2020-01-29 08:51:49 | The IthaGenes Curation Team | Reviewed. Merged with IthaID 290 |
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.
IthaGenes was last updated on 2024-11-20 13:24:07