IthaID: 3822
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
---|---|---|---|
Common Name: | --227 | HGVS Name: | NC_000016.10:g.35880_(262740_268502)del |
Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Found in a pregnant woman and her fetus. The deletion contains 11 genes, including the entire a-globin gene cluster (HBZ, HBM, HBA2, HBA1, and HBQ) and its regulatory region. The 5’ breakpoint includes the POLR3K gene while the 3’ breakpoint includes the FAM234A gene.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
Hemoglobinopathy Group: | Thalassaemia |
---|---|
Hemoglobinopathy Subgroup: | α-thalassaemia |
Allele Phenotype: | α0 |
Associated Phenotypes: | N/A |
Other details
Type of Mutation: | Deletion |
---|---|
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
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
- Wang Y, Xiong Y, Liu C, Lu J, Wang J, Qin D, Liu L, Wu J, Zhao X, Fang L, Du L, Yin A, Characterisation of two unusual cases of haemoglobin Bart's hydrops foetalis caused by - and large novel α-globin gene cluster deletions., J Int Med Res, 49(2), 300060521993642, 2021 PubMed
Created on 2021-07-16 09:54:00,
Last reviewed on (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2021-07-16 09:54:00 | The IthaGenes Curation Team | Created |
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.
IthaGenes was last updated on 2024-12-12 10:33:52