IthaID: 2164
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Tennessean (εγδβ)0 | HGVS Name: | NG_000007.3:g.10054_21931del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The deletion removes the HS1, HS2 and HS3 elements of the βLCR leading to the effective silence of the downstream normal β-globin and β-like globin genes expression.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | εγδβ-thalassaemia |
| Allele Phenotype: | (εGγAγδβ)0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 10054 |
| Size: | 11.878 kb |
| Deletion involves: | βLCR |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Tennessean, African-American |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Koenig SC, Becirevic E, Hellberg MS, Li MY, So JC, Hankins JS, Ware RE, McMahon L, Steinberg MH, Luo HY, Chui DH, Sickle cell disease caused by heterozygosity for Hb S and novel LCR deletion: Report of two patients., Am. J. Hematol. , 84(9), 603-6, 2009
Created on 2013-09-30 11:12:59,
Last reviewed on 2022-05-30 09:34:37 (Show full history)
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