IthaID: 2564


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: 3'UTR +1592 (A>G) HGVS Name: HBB:c.*118A>G
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Found in combination with CD 39 (C>T), diagnosed with β-thal intermedia. Carriers do not have hematological parameters associated with β-thal.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β++ (silent)
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 72136
Size: 1 bp
Located at: β
Specific Location: 3'UTR

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Spanish
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Herrera MA, De La Fuente-Gonzalo F, González FA, Nieto JM, Dominguez AB, Villegas A, Ropero P, Identification of a novel mutation in the β-globin gene 3' untranslated region (HBB: c.*+118A > G) in Spain., Hemoglobin , 39(1), 30-5, 2015
Created on 2015-12-03 11:34:42, Last reviewed on 2017-06-28 12:50:16 (Show full history)

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