IthaID: 3233
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | IVS I 3' AG>-C | HGVS Name: | HBD:c.93-2delA |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: One additional case was reported in a 28-year-old Chinese male presented normal haematological indices with decreased Hb A2 level.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δ-thalassaemia |
| Allele Phenotype: | δ0 δ+ |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 63401 |
| Size: | 1 bp |
| Located at: | δ |
| Specific Location: | Intron 1 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Splice junction (mRNA Processing) |
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Liu N, Xie XM, Zhou JY, Li R, Liao C, Li DZ, Analysis of δ-globin gene mutations in the Chinese population., Hemoglobin , 37(1), 85-93, 2013
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Li, Youqiong | 2022-09-08 | Report of an update. |
Created on 2017-07-12 12:12:18,
Last reviewed on 2022-09-15 12:04:38 (Show full history)
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