IthaID: 1404
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | N/A | HGVS Name: | NG_000007.3:g.63160_70572dup |
| Hb Name: | Hb Hong Kong | Protein Info: | βδ hybrid (β through CAP site; δ from exon 1) |
Also known as: Hb Anti-Lepore Hong Kong
Comments: Anti-Lepore βδ hybrid. A crossover within a 54-bp region spanning the junction of cap site (CAP) and exon 1. Protein is identical to δ globin.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | δ-chain variant |
| Allele Phenotype: | δβ fusion |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | N/A |
| Size: | N/A |
| Fusion involves: | δ, β |
Other details
| Type of Mutation: | Fusion |
|---|---|
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
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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Otherwise, use this external link.
Publications / Origin
- So CC, Chan AY, Tsang ST, Lee AC, Au WY, Ma ES, Chan LC, A novel beta-delta globin gene fusion, anti-Lepore Hong Kong, leads to overexpression of delta globin chain and a mild thalassaemia intermedia phenotype when co-inherited with beta(0)-thalassaemia., British journal of haematology, 136(1), 158-62, 2007 PubMed
Created on 2010-06-16 16:13:17,
Last reviewed on 2021-11-23 13:02:22 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:17 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2015-12-07 16:09:16 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2017-10-12 12:59:00 | The IthaGenes Curation Team | Reviewed. Allele phenotype corrected |
| 5 | 2018-02-22 19:08:00 | The IthaGenes Curation Team | Reviewed. HGVS name and HbVar link added. |
| 6 | 2021-11-23 13:02:22 | The IthaGenes Curation Team | Reviewed. Type of variant corrected. |
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IthaGenes was last updated on 2024-12-03 11:48:06