IthaID: 3360
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 9.7 kb deletion | HGVS Name: | NG_000006.1:g.32709_42418del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion begins 1067 bp upstream (5') of the translation initiation codon of the HBA2 gene, and extends 4144 bp downstream (3') of the HBA1 gene. It removes the entire HbA1, HbA2 and HBQ genes. The 5' and 3' ends of the breakpoint are located at positions 32708 and 42419, respectively (GRCh37/hg19). Sequences at 32703-32708 and 42419-42424 are identical (CTGCTC). Possibly generated by a site-specific recombination.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 32709 |
| Size: | 9.7 kb |
| Deletion involves: | α2, α1 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Zhuang-Chinese |
| 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
- Lin L, Yang Q, Zhang S, Zuo Y, He S, Xu X, Chen B, Qiu X, Identification of a Novel 9.7 kb Deletion Causing α-Thalassemia in Two Pregnant Women in Southern China., Hemoglobin, 42(3), 209-212, 2018 PubMed
Created on 2019-04-02 12:27:42,
Last reviewed on 2019-04-02 12:29:53 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2019-04-02 12:27:42 | The IthaGenes Curation Team | Created |
| 2 | 2019-04-02 12:29:53 | The IthaGenes Curation Team | Reviewed. Location added. |
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IthaGenes was last updated on 2024-04-18 10:10:45