IthaID: 2479


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Toledo HGVS Name: NG_000007.3:g.11835_13826del
Hb Name: N/A Protein Info: β nts range (-58711 - -56718)

Also known as: 1992 bp deletion

Comments: The deletion exclusively affects only the HS3 element of the βLCR. Found in a male presented with very mild microcytosis, indicating that HS3 deletion does not severely impair the β-gene expression.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:N/A
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 11835
Size: 1.992 kb
Deletion involves: βLCR

Other details

Type of Mutation: Deletion
Ethnic Origin: Spanish
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Nieto JM, Villegas A, De La Fuente-Gonzalo F, González FA, Ropero P, Heterozygosity for deletion of hypersensitive site 3 in the human locus control region has an unexpected minor effect on red cell phenotype., J Hum Genet, 59(10), 585-7, 2014
Created on 2014-06-04 09:49:02, Last reviewed on 2022-05-26 15:06:09 (Show full history)

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