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: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
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%.
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
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To the best of our knowledge, this is unpublished data.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)
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