IthaID: 3957
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 68.9 kb HS-40 deletion | HGVS Name: | NC_000016.10:g.52778_121630del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Found in compound heterozygosity with rightward crossover -α3.7 [IthaID: 300], leading to Hb H disease (HbH: 5.3%).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | 68.853 kb |
| Deletion involves: | HS40, NPRL3 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Chinese |
| 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To the best of our knowledge, this is unpublished data.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 | 2022-08-09 | First report. |
Created on 2022-08-10 08:28:31,
Last reviewed on (Show full history)
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