IthaID: 3563

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 126 GTG>-TG HGVS Name: HBB:c.379delG
Hb Name: N/A Protein Info: p.Val127Cysfs*32

Context nucleotide sequence:

Also known as:

Comments: Reported as a de novo mutation in a heterozygous carrier presenting with mild β-thalassaemia intermedia phenotype. Both his parents had normal β gene analysis. The proband had hemolytic anaemia with splenomegaly and his bone marrow showed erythroid hyperplasia and dyserythropoiesis resembling congenital dyserythropoietic anaemia (CDA). The loss of a nt G from codon 126 results in a frameshift and the elongation of the β-globin chain to 156 amino acids (157 aa is "TAA").

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:Dominant
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71953
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Gürlek-Gökçebay D, Akpinar-Tekgunduz S, Erdem HB, Yarali N, A Heterozygous Variant (: c.379delG, p.Val127Cysfs*32) Associated with a Mild β-Thalassemia Intermedia Phenotype in a Turkish Child., Hemoglobin, 43(0), 277-279, 2019
Created on 2020-01-31 12:46:24, Last reviewed on 2020-01-31 12:47:49 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.