IthaID: 3936
Names and Sequences
| Functionality: | Neutral polymorphism | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Italian HS1 | HGVS Name: | NG_000007.3:g.21088_24120del |
Also known as:
Comments: The deletion removes only the HS1 element of the βLCR leaving intact the functionality of βLCR and β-globin genes.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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
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
- 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
Created on 2022-05-27 12:42:51,
Last reviewed on (Show full history)
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