IthaID: 3294
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 22 kb deletion | HGVS Name: | NG_000006.1:g.20350_42078del |
| 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 approximately 22 kb on the α-globin gene cluster removing both α-globin genes. The 5' breakpoint is located within a region usptream of the HBZP pseudogene, and the 3' breakpoint is located within a region between the HBQ1 and LUC7L genes. It is similar to a deletion reported in [PMID: 20110179].
External Links
No available 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: | 20350 |
| Size: | 21.729 kb |
| Deletion involves: | α2, α1, HBM |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Brazilian, Indian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Sequence Viewer
Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI.
Therefore, IthaGenes has no responsibility over any temporary unavailability of the service.
In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
Publications / Origin
- Phylipsen M, Prior JF, Lim E, Lingam N, Vogelaar IP, Giordano PC, Finlayson J, Harteveld CL, Thalassemia in Western Australia: 11 novel deletions characterized by Multiplex Ligation-dependent Probe Amplification., Blood Cells Mol. Dis. , 44(3), 146-51, 2010 PubMed
- Mota NO, Kimura EM, Ferreira RD, Pedroso GA, Albuquerque DM, Ribeiro DM, Santos MNN, Bittar CM, Costa FF, Sonati MF, Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients., Genet. Mol. Biol. , 40(4), 768-773, 2017 PubMed
Created on 2018-01-09 19:02:34,
Last reviewed on 2022-01-24 17:48:01 (Show full history)
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.