IthaID: 2462
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 71 -T | HGVS Name: | HBB:c.216delT |
| Hb Name: | N/A | Protein Info: | β 71 (-T); modified C-terminal sequence: (71)Leu-Val-Met-Ala-Trp-Leu-Thr-Trp-Thr-Thr- Ser-Arg-Ala-Pro-Leu-Pro-His-(88)COOH |
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70940 |
| Size: | 1 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: | Greek |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Konialis C, Hagnefelt B, Sevastidou S, Pispili K, Pangalos C, A novel β(0)-thalassemia frameshift mutation: [HBB:c.216delT]., Hemoglobin , 36(6), 586-8, 2012
Created on 2014-06-03 14:46:14,
Last reviewed on (Show full history)
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