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
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
Created on 2016-08-25 12:58:17,
Last reviewed on 2022-01-28 19:50:26 (Show full history)
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