IthaID: 3607
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
---|---|---|---|
Common Name: | 63 Kb deletion | HGVS Name: | NC_000016.10:g.(143655_149367)_(181204_206338)del |
Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The novel α0-thal deletion found in combination with the rightward –α3.7 deletion, causing Hb H disease in a 3-month-old female from India. The deletion removed HBA2 and HBA1 and spanned the region from HBZ to HBQ1, with the upstream major regulatory element HS-40 remaining intact. The 5’ breakpoint is localised between the positions 143655 and 149367 while the 3’ breakpoint is localized between 181204 and 206338 (coordinates: GRCh38.p13, NC_000016.10). As the breakpoints are not clearly defined the deletion size is just an approximation.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
Hemoglobinopathy Group: | Thalassaemia |
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Hemoglobinopathy Subgroup: | α-thalassaemia |
Allele Phenotype: | α0 |
Associated Phenotypes: | N/A |
Location
Chromosome: | 16 |
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Locus: | NG_000006.1 |
Locus Location: | 4518 |
Size: | 62.682 kb |
Deletion involves: | ζ, α2, α1 |
Other details
Type of Mutation: | Deletion |
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Ethnic Origin: | Indian |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Breakpoint 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
- Moore JA, Pullon BM, Drake KM, Brennan SO, Novel α-Thalassemia Deletion Identified in an Indian Infant with Hb H Disease., Hemoglobin, 44(4), 1-5, 2020 PubMed
Created on 2020-08-07 10:49:00,
Last reviewed on 2020-08-10 11:14:09 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2020-08-07 10:49:00 | The IthaGenes Curation Team | Created |
2 | 2020-08-07 10:58:06 | The IthaGenes Curation Team | Reviewed. Reference added. |
3 | 2020-08-07 11:07:32 | The IthaGenes Curation Team | Reviewed. Reference added. |
4 | 2020-08-10 11:14:09 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-11-14 09:07:40