IthaID: 2164

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Tennessean (εγδβ)0 HGVS Name: NG_000007.3:g.10054_21931del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion removes the HS1, HS2 and HS3 elements of the βLCR leading to the effective silence of the downstream normal β-globin and β-like globin genes expression.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: εγδβ-thalassaemia
Allele Phenotype:(εGγAγδβ)0
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 10054
Size: 11.878 kb
Deletion involves: βLCR

Other details

Type of Mutation: Deletion
Ethnic Origin: Tennessean, African-American
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Koenig SC, Becirevic E, Hellberg MS, Li MY, So JC, Hankins JS, Ware RE, McMahon L, Steinberg MH, Luo HY, Chui DH, Sickle cell disease caused by heterozygosity for Hb S and novel LCR deletion: Report of two patients., Am. J. Hematol. , 84(9), 603-6, 2009 PubMed
Created on 2013-09-30 11:12:59, Last reviewed on 2022-05-30 09:34:37 (Show full history)

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