IthaID: 286
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 619 bp deletion | HGVS Name: | NG_000007.3:g.71609_72227del619 |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as: Asian Indian
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: | 71609 |
| Size: | 619 bp |
| Deletion involves: | β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Asian Indian, Pakistani |
| 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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Frequencies
Publications / Origin
- Orkin SH, Old JM, Weatherall DJ, Nathan DG, Partial deletion of beta-globin gene DNA in certain patients with beta 0-thalassemia., Proceedings of the National Academy of Sciences of the United States of America, 76(5), 2400-4, 1979 PubMed
- Orkin SH, Kolodner R, Michelson A, Husson R, Cloning and direct examination of a structurally abnormal human beta 0-thalassemia globin gene., Proceedings of the National Academy of Sciences of the United States of America, 77(6), 3558-62, 1980 PubMed
- Baysal E, Sharma S, Wong SC, Jogessar VB, Huisman TH, Distribution of beta-thalassemia mutations in three Asian Indian populations with distant geographical locations., Hemoglobin, 18(3), 201-9, 1994 PubMed
- Yasmeen H, Toma S, Killeen N, Hasnain S, Foroni L, The molecular characterization of Beta globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population., Eur J Med Genet , 59(8), 355-62, 2016 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2020-08-11 14:05:40 (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 | 2016-09-02 14:40:54 | The IthaGenes Curation Team | Reviewed. Origin and Reference added. Confirmed by sequencing. |
| 4 | 2020-08-11 14:05:40 | The IthaGenes Curation Team | Reviewed. Common name. |
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IthaGenes was last updated on 2024-11-20 13:24:07