IthaID: 3018
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --NOR | HGVS Name: | NC_000016.10:g.170694_184101del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: HGVS is provided according the 3’ end rule of HGVS Sequence Variant Nomenclature recommendations. In literature reported that the 13.4 Kb deletion starts upstream of HBA2 at position 170677/170694 and ends at position 184083/184100 because of an 18 nucleotides homologous sequence.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 31577 |
| Size: | 13.408 kb |
| Deletion involves: | α2, α1 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Norwegian |
| 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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Publications / Origin
- Grimholt RM, Fjeld B, Klingenberg O, Hemoglobinopathy gone astray-three novel forms of α-thalassemia in Norwegian patients characterized by quantitative real-time PCR and DNA sequencing., Scand J Clin Lab Invest, 2021 PubMed
Created on 2016-08-25 12:58:17,
Last reviewed on 2022-01-28 19:50:26 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-08-25 12:58:17 | The IthaGenes Curation Team | Created |
| 2 | 2016-08-25 15:28:03 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2016-08-25 15:29:21 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2020-07-07 16:03:08 | The IthaGenes Curation Team | Reviewed. HGVS name corrected. |
| 5 | 2022-01-28 19:50:26 | The IthaGenes Curation Team | Reviewed. Comment and Reference added. |
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IthaGenes was last updated on 2024-11-20 13:24:07