IthaID: 3283
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --JS | HGVS Name: | NG_000006.1:g.35801_38338delinsGGCCTCCCAACGGGCCCTCCTCCCCTCCT |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
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.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | 6.8 kb |
| Deletion involves: | α2, α1 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
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)
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