IthaID: 3258
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --NFLD | HGVS Name: | NC_000016.10:g.169197_259919delinsCACCCAGCACCCAGTACCA |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion spans 90.7 kb on the α-globin gene cluster removing the HBA2, HBA1 and LUC7L genes, as well as exons 1 and 2 of the FAM234A gene. The 5' deletion breakpoint is within the HBAP1 pseudogene, approximately 3.7 kb upstream of the HBA2 gene. The 3' deletion breakpoint is approximately 82.5 kb downstream of the HBA1 gene, within the second intervening sequence (IVS-II) of the FAM234A gene.
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: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | 90.7 kb |
| Deletion involves: | α2, α1 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Canadian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Waye JS, Eng B, Hanna M, Hohenadel BA, Nakamura L, Walker L, α(0)-Thalassemia Due to a 90.7 kb Deletion (- -(NFLD))., Hemoglobin , 2017
Created on 2017-09-16 10:16:59,
Last reviewed on 2018-01-08 19:14:30 (Show full history)
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