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


Allele Phenotype:Neutral
Associated Phenotypes: N/A


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

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Publications / Origin

  1. 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
  2. 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)

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