IthaID: 84



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 22-24 ( -7 bp): (-AAGTTGG) HGVS Name: HBB:c.68_74delAAGTTGG
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CTGTGGGGCAAGGTGAACGTGGATG [-/AAGTTGG] TGGTGAGGCCCTGGGCAGGTTGGTA (Strand: -)

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70662
Size: 1 bp
Located at: β
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Turkish
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: MLPA

Sequence Viewer

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Frequencies

Publications / Origin

  1. Ozçelik H, Başak AN, Tüzmen S, Kirdar B, Akar N, A novel deletion in a Turkish beta-thalassemia patient detected by DGGE and direct sequencing: FSC 22-24 (-7 bp)., Hemoglobin, 17(4), 387-91, 1993 PubMed
Created on 2010-06-16 16:13:14, Last reviewed on 2016-07-15 11:15:11 (Show full history)

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