IthaID: 3959
Names and Sequences
| Functionality: | Neutral polymorphism | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | HBG1-HBG2 deletion | HGVS Name: | NG_000007.3:g.43348_48271del |
Also known as:
Comments: Found in a case with normal haematological indices (Hb 12.5 g/dL, MCV 93.2 fL, MCH 30.8 pg, Hb A2 2.7% and HbF 0%).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Allele Phenotype: | Neutral |
|---|---|
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 43348 |
| Size: | 4.924 kb |
| Deletion involves: | Aγ, Gγ |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Han |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint 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To the best of our knowledge, this is unpublished data.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 | Luo, Shiqiang | 2022-08-04 | First report. |
Created on 2022-08-11 13:28:29,
Last reviewed on 2022-08-11 13:37:51 (Show full history)
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