IthaID: 2157
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Indian | HGVS Name: | NG_000007.3:g.67357_71413del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as: 4056 bp deletion
Comments: The 4056-bp deletion was reported in a 4-year old Indian boy presented with hepatomegaly and severe anemia (Hb 5.5 g/dl) requiring frequent blood transfusions from the age of two years. Both parents had hypochromic microcytic anemia and increased HbA2 (>7%). The 5’ breakpoint is localised in the promoter region of the β-globin gene and the 3’ breakpoint is localized within the second intron of the β-globin gene (coordinates: GRCh38.p13, NC_000011.10).
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: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 67357 |
| Size: | 4.056 kb |
| Deletion involves: | β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Indian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
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
- Mayuranathan T, Rayabaram J, Edison ES, Srivastava A, Velayudhan SR, A novel deletion of β-globin promoter causing high HbA2 in an Indian population., Haematologica , 97(9), 1445-7, 2012 PubMed
Created on 2013-09-28 19:17:11,
Last reviewed on 2020-07-06 15:58:19 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2013-09-28 19:17:11 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2020-07-06 15:58:19 | The IthaGenes Curation Team | Reviewed. HGVS name, comment, chromosome and locus location added. |
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IthaGenes was last updated on 2025-01-10 11:42:39