IthaID: 64



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 9/10 (+T) HGVS Name: HBB:c.30_31insT
Hb Name: Hb Gaziantep Protein Info: N/A

Context nucleotide sequence:
GCATCTGACTCCTGAGGAGAAGTCT [-/T] GCCGTTACTGCCCTGTGGGGCAAGG (Strand: -)

Also known as: HBB:c.30_dupT

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70624
Size: 1 bp
Located at: β
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:β0
Stability: Hyperunstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Greek, Arab, Turkish
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Frequencies

Publications / Origin

  1. Waye JS, Eng B, Olivieri NF, Chui DH, Identification of a novel beta O-thalassaemia mutation in a Greek family and subsequent prenatal diagnosis., Prenatal diagnosis, 14(10), 929-32, 1994 PubMed
Created on 2010-06-16 16:13:14, Last reviewed on 2019-06-11 16:51:03 (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.

Please publish modules in offcanvas position.