IthaID: 198
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 100 (-CC,+TCTGAGAACTT) >158aa | HGVS Name: | HBB:c.301_302delCCinsTCTGAGAACTT |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
GCACTGTGACAAGCTGCACGTGGAT [CC/TCTGAGA] TGAGAACTTCAGGGTGAGTCTATGG (Strand: -)
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia, β-chain variant |
| Allele Phenotype: | β0 Dominant |
| Stability: | Hyperunstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71025 |
| Size: | 3 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Insertion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | S. African |
| Molecular mechanism: | N/A |
| Inheritance: | Dominant |
| DNA Sequence Determined: | No |
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
- Williamson D, Brown KP, Langdown JV, Baglin TP, Mild thalassemia intermedia resulting from a new insertion/frameshift mutation in the beta-globin gene., Hemoglobin, 21(6), 485-93, 1997 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2018-04-25 17:12:45 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2018-04-25 17:12:45 | The IthaGenes Curation Team | Reviewed. HGVS name corrected |
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IthaGenes was last updated on 2024-04-18 10:10:45