IthaID: 3937
Names and Sequences
Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
---|---|---|---|
Common Name: | 188.7 kb dup | HGVS Name: | NC_000016.10:g.62166_250991del |
Also known as:
Comments: The duplication includes the entire α-globin locus.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
Allele Phenotype (Cis): | N/A |
---|---|
Allele Phenotype (Trans): | N/A |
Associated Phenotypes: | N/A |
Other details
Type of Mutation: | Duplication |
---|---|
Ethnic Origin: | Chinese/Anglo-Saxon English |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence 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.
Publications / Origin
- Clark B, Shooter C, Smith F, Brawand D, Steedman L, Oakley M, Rushton P, Rooks H, Wang X, Drousiotou A, Kyrri A, Hadjigavriel M, Will A, Fisher C, Higgs DR, Phylipsen M, Harteveld C, Kleanthous M, Thein SL, Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis., Br J Haematol, 180(1), 160-164, 2018
Created on 2022-06-16 15:33:56,
Last reviewed on 2022-06-16 15:54:19 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2022-06-16 15:33:56 | The IthaGenes Curation Team | Created |
2 | 2022-06-16 15:37:42 | The IthaGenes Curation Team | Reviewed. Size added. |
3 | 2022-06-16 15:54:19 | The IthaGenes Curation Team | Reviewed. |
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 2024-09-28 12:00:32