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: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
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.
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
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
Created on 2023-11-27 17:32:30,
Last reviewed on (Show full history)
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