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 |
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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 |
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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
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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 |
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IthaGenes was last updated on 2024-12-12 10:33:52