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

Phenotype

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

Location

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

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
Created on 2016-08-25 15:43:30, Last reviewed on 2017-05-30 10:15:54 (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.