IthaID: 3294
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 22 kb deletion | HGVS Name: | NG_000006.1:g.20350_42078del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion spans approximately 22 kb on the α-globin gene cluster removing both α-globin genes. The 5' breakpoint is located within a region usptream of the HBZP pseudogene, and the 3' breakpoint is located within a region between the HBQ1 and LUC7L genes. It is similar to a deletion reported in [PMID: 20110179].
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 20350 |
| Size: | 21.729 kb |
| Deletion involves: | α2, α1, HBM |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Brazilian, Indian |
| 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
- Phylipsen M, Prior JF, Lim E, Lingam N, Vogelaar IP, Giordano PC, Finlayson J, Harteveld CL, Thalassemia in Western Australia: 11 novel deletions characterized by Multiplex Ligation-dependent Probe Amplification., Blood Cells Mol. Dis. , 44(3), 146-51, 2010 PubMed
- Mota NO, Kimura EM, Ferreira RD, Pedroso GA, Albuquerque DM, Ribeiro DM, Santos MNN, Bittar CM, Costa FF, Sonati MF, Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients., Genet. Mol. Biol. , 40(4), 768-773, 2017 PubMed
Created on 2018-01-09 19:02:34,
Last reviewed on 2022-01-24 17:48:01 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2018-01-09 19:02:34 | The IthaGenes Curation Team | Created |
| 2 | 2018-01-10 17:12:50 | The IthaGenes Curation Team | Reviewed. Deletion breakpoints added. Comment edited. |
| 3 | 2022-01-24 11:49:16 | The IthaGenes Curation Team | Reviewed. Locus location added. |
| 4 | 2022-01-24 17:48:01 | The IthaGenes Curation Team | Reviewed. Reference and origin added. |
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IthaGenes was last updated on 2024-04-18 10:10:45