IthaID: 2165
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Puerto Rican (εγδβ)0 | HGVS Name: | NG_000007.3:g.2904_25432del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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: | 2904 |
| Size: | 22.529 kb |
| Deletion involves: | βLCR |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Puerto Rican |
| 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
- 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 PubMed
Created on 2013-09-30 11:16:04,
Last reviewed on 2022-05-30 12:02:00 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2013-09-30 11:16:04 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2022-05-30 12:02:00 | The IthaGenes Curation Team | Reviewed. Chromosome and locus location added. |
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IthaGenes was last updated on 2024-12-03 11:48:06