IthaID: 3019

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 68-70 (-7bp): (-TCGGTGC) HGVS Name: HBB:c.206_212delTCGGTGC
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Found as a heterozygote in a patient with beta-thal minor clinical presentation. This is a frameshift mutation that causes a premature chain termination of translation due to the creation of a stop codon 19 amino acids downstream, forming a short β-globin chain of 87 amino acids.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70930
Size: 7 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Turkish
Molecular mechanism: Altered secondary structure
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Ozkinay F, Onay H, Karaca E, Arslan E, Erturk B, Ece Solmaz A, Tekin IM, Cogulu O, Aydinok Y, Vergin C, Molecular Basis of β-Thalassemia in the Population of the Aegean Region of Turkey: Identification of A Novel Deletion Mutation., Hemoglobin , 39(4), 230-4, 2015 PubMed
Created on 2016-08-25 15:43:30, Last reviewed on 2017-05-30 10:15:54 (Show full history)

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