IthaID: 3070
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | αααα282 | HGVS Name: | NC_000016.10:g.44054_44055ins[NC_000016.10:g.10001_232200] |
Also known as: αααα222
Comments: The duplication spans a region starting from the telomere (position 60001 bp) to a downstream breakpoint localized to position 282,199 bp (GRCh37.p13). The duplication segment is inserted between 94,054-94,055 bp (GRCh37.p13). According to the telomere starting site, the duplication spans a smaller region of 222 kb including entire α-globin locus. Heterozygosity for this duplication defect (6 instead of 4 α-globin genes) associated with normal haemoglobin levels. Co-inheritance with a β-globin gene defect associated with a β-thalassemia intermedia status.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Duplication |
|---|---|
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence 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
- Hu L, Shang X, Yi S, Cai R, Li Z, Liu C, Liang Y, Cai D, Zhang F, Xu X, Two novel copy number variations involving the α-globin gene cluster on chromosome 16 cause thalassemia in two Chinese families., Mol. Genet. Genomics , 291(3), 1443-50, 2016 PubMed
Created on 2016-09-06 17:40:11,
Last reviewed on 2021-11-25 13:20:35 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-09-06 17:40:11 | The IthaGenes Curation Team | Created |
| 2 | 2016-09-07 10:47:51 | The IthaGenes Curation Team | Reviewed. Gene information corrected. |
| 3 | 2021-06-25 10:39:47 | The IthaGenes Curation Team | Reviewed. HGVS name and chromosome location added. Comment and size corrected. |
| 4 | 2021-11-25 13:19:37 | The IthaGenes Curation Team | Reviewed. Functionality corrected. |
| 5 | 2021-11-25 13:20:35 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-12-03 11:48:06