IthaID: 290
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Thai | HGVS Name: | NG_000007.3:g.69826_73313del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as: 3485 bp deletion, Chongqing deletion, NC_000011.10: g.5224303-5227790del, NC_000011.9: g.5245533_5249020del
Comments: The 5’ breakpoint is located 769bp upstream, and the 3’ breakpoint lies 1292bp downstream from the β-globin gene.
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: | 69826 |
| Size: | 3.488 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
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In such a case, please Refresh the page or retry at a later stage.
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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
- Yin ZZ, Yao J, Wei FX, Chen CY, Yan HM, Zhang M, Targeted Next-Generation Sequencing Reveals a Large Novel β-Thalassemia Deletion that Removes the Entire Gene., Hemoglobin, 2022 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2022-12-12 15:56:44 (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 | 2021-10-26 13:15:07 | The IthaGenes Curation Team | Reviewed. HGVS name and reference added. |
| 4 | 2021-10-26 13:17:09 | The IthaGenes Curation Team | Reviewed. Size corrected. |
| 5 | 2022-12-12 15:55:44 | The IthaGenes Curation Team | Reviewed. Reference, Other names, Ethnic origin, ClinVar link added |
| 6 | 2022-12-12 15:56:44 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-11-20 13:24:07