IthaID: 3936
Names and Sequences
| Functionality: | Neutral polymorphism | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Italian HS1 | HGVS Name: | NG_000007.3:g.21088_24120del |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The deletion removes only the HS1 element of the βLCR leaving intact the functionality of βLCR and β-globin genes.
External Links
No available links
Phenotype
| Allele Phenotype: | Neutral |
|---|---|
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 21088 |
| Size: | 3.033 kb |
| Deletion involves: | βLCR |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Italian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
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
- Kulozik AE, Bail S, Bellan-Koch A, Bartram CR, Kohne E, Kleihauer E, The proximal element of the beta globin locus control region is not functionally required in vivo., J Clin Invest, 87(6), 2142-6, 1991 PubMed
- Amid A, Cheong M, Eng B, Hanna M, Hohenadel BA, Nakamura LM, Walker L, Odame I, Kirby-Allen M, Waye JS, Hb S/β+-thalassemia due to Hb sickle and a novel deletion of DNase I hypersensitive sites HS3 and HS4 of the β locus control region., Haematologica , 100(5), e166-8, 2015 PubMed
Created on 2022-05-27 12:42:51,
Last reviewed on (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.