IthaID: 2184
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 6-14 (-26 bp) | HGVS Name: | HBB:c.20_45del26bp |
| Hb Name: | N/A | Protein Info: | β 6-14 (-AGGAGAAGTCTGCCGTTACTGCCCTG); modified C-terminal sequence: (6)Val-Gly-Gln-Gly-Glu-Arg-Gly-(13)COOH |
| Also known as: | 26 bp deletion |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70613 |
| Size: | 26 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Asian Indian |
| Molecular mechanism: | Altered secondary structure |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Edison ES, Venkatesan RS, Govindanattar SD, George B, Shaji RV, A novel 26 bp deletion [HBB: c.20_45del26bp] in exon 1 of the β-globin gene causing β-thalassemia major., Hemoglobin , 36(1), 98-102, 2012
Created on 2013-09-30 16:34:47,
Last reviewed on 2018-04-17 09:26:30 (Show full history)
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