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
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
Created on 2010-06-16 16:13:15,
Last reviewed on 2018-04-25 17:12:45 (Show full history)
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