IthaID: 4084
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 133-135 (-7 bp, -GCACCGT) | HGVS Name: | HBA1:c.401_407del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: A 7 base deletion (GCACCGT) characterized by reduced hemoglobin A2, detected by NGS in the proband and his father and confirmed by Sanger sequencing.
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: | 38246 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| 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
- Wu BD, Zhou XY, Xie MJ, Jin CC, Yan YL, He J, Zhu BS, Zhang J, Identification of a Novel 7-bp Deletion in the α-Globin Gene Cluster in One Chinese Family., Hemoglobin, 47(2), 49-51, 2023 PubMed
Created on 2023-11-27 17:32:30,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2023-11-27 17:32:30 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-04-24 11:43:02