IthaID: 288
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Black, British | HGVS Name: | NG_000007.3:g.70060_71452del1393 |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as: 1393 bp deletion
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: | 70060 |
| Size: | 1.393 kb |
| Deletion involves: | β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | African-American, British |
| 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
- Padanilam BJ, Felice AE, Huisman TH, Partial deletion of the 5' beta-globin gene region causes beta zero-thalassemia in members of an American black family., Blood, 64(4), 941-4, 1984 PubMed
- Anand R, Boehm CD, Kazazian HH, Vanin EF, Molecular characterization of a beta zero-thalassemia resulting from a 1.4 kilobase deletion., Blood, 72(2), 636-41, 1988 PubMed
- Gonzalez-Redondo JM, Kattamis C, Huisman TH, Characterization of three types of beta zero-thalassemia resulting from a partial deletion of the beta-globin gene., Hemoglobin, 13(4), 377-92, 1989 PubMed
- Thein SL, Hesketh C, Brown JM, Anstey AV, Weatherall DJ, Molecular characterization of a high A2 beta thalassemia by direct sequencing of single strand enriched amplified genomic DNA., Blood, 73(4), 924-30, 1989 PubMed
- Waye JS, Chui DH, Eng B, Cai SP, Coleman MB, Adams JG, Steinberg MH, Hb S/beta zero-thalassemia due to the approximately 1.4-kb deletion is associated with a relatively mild phenotype., American journal of hematology, 38(2), 108-12, 1991 PubMed
- Wang X, Xu JZ, Conrey A, Mendelsohn L, Shriner D, Pirooznia M, Thein SL, Whole genome sequence-based haplotypes reveal a single origin of the 1393 bp deletion., J. Med. Genet., 2020 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2020-07-02 14:42:07 (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 | 2020-07-02 14:42:07 | The IthaGenes Curation Team | Reviewed. Reference added. |
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IthaGenes was last updated on 2024-12-12 10:33:52