IthaID: 3283
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
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Common Name: | --JS | HGVS Name: | NG_000006.1:g.35801_38338delinsGGCCTCCCAACGGGCCCTCCTCCCCTCCT |
Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion spans about 6.8 kb on the α-globin gene cluster, removing almost the entire α2 and α1 genes. Breakpoints were determined. A 2538 bp deletion (NG_000006.1:g.35801_38338) existed in this deletion by comparison to the -α4.2, as well as a 29 bp insertion (NG_000006.1: g.34497_34527) into the deletion junction, which was derived from the 3' terminal of the α2 coding gene sequence during the recombination events that led to this deletion.
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: | N/A |
Size: | 6.8 kb |
Deletion involves: | α2, α1 |
Other details
Type of Mutation: | Deletion |
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Ethnic Origin: | 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
- Cao J, He S, Pu Y, Liu J, Liu F, Feng J, Prenatal Diagnosis and Molecular Analysis of a Large Novel Deletion (- -JS) Causing α0-Thalassemia., Hemoglobin , 2017 PubMed
Created on 2017-12-13 17:34:58,
Last reviewed on (Show full history)
A/A | Date | Curator(s) | Comments |
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1 | 2017-12-13 17:34:58 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-11-14 09:07:40