IthaID: 3287
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 89-93 (-14bp): (-AGTGAGCTGCACTG) | HGVS Name: | HBB:c.268_281delAGTGAGCTGCACTG |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion causes a frameshift, which results in a premature stop codon at codon 89, leading to a shorter and unfinished protein product.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70992 |
| Size: | 14 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
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
- Cheng C, Peng Q, Li S, Yang L, Li W, Rao C, Lu X, Coinheritance of α- and β-Thalassemia with a Novel Mutation (HBB: c.268_281delAGTGAGCTGCACTG) in a Chinese Family., Hemoglobin , 2017
Created on 2017-12-19 17:39:38,
Last reviewed on (Show full history)
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