IthaID: 4096
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Hb Anti-Lepore Laibin | HGVS Name: | NG_000007.3:g.63100_70511dup |
| Hb Name: | Hb Anti-Lepore Laibin | Protein Info: | N/A |
Also known as:
Comments: Found in a 27-year-old Chinese male presented with normal hematological indices (Hb 14.8 g/dL,MCV 92.1 fL,MCH 30.6 pg,RBC 4.84×1012/L). HbX and HbA2 cannot be separated using capillary 2 Flex Piercing device,and both located in Zone 3.The results showed HbA 81.8%, HbA2+HbX 18.2%.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available 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: | 63100 |
| Size: | 7.412 kb |
| Fusion involves: | δ, β |
Other details
| Type of Mutation: | Fusion |
|---|---|
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence 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
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Huang, Yuanyuan | 2024-02-29 | First report. |
Created on 2024-03-01 14:19:36,
Last reviewed on 2024-03-05 13:33:28 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2024-03-01 14:19:36 | The IthaGenes Curation Team | Created |
| 2 | 2024-03-05 13:33:28 | The IthaGenes Curation Team | Reviewed. Microattribution |
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IthaGenes was last updated on 2024-04-24 11:43:02