IthaID: 185



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 82/83 (-G) HGVS Name: HBB:c.250delG
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CCTGGCTCACCTGGACAACCTCAAG [-/G] GCACCTTTGCCACACTGAGTGAGCT (Strand: -)

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70974
Size: 1 bp
Located at: β
Specific Location: Exon 2

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: Czech, Azerbaijan
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: MLPA

Sequence Viewer

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Frequencies

Publications / Origin

  1. Schwartz EI, Gol'tsov AA, Kaboev OK, Alexeev AA, Solovyev GYa , Surin VL, Lukianenko AV, Vinogradov SV, Berlin YuA , A novel frameshift mutation causing beta-thalassaemia in Azerbaijan., Nucleic acids research, 17(10), 3997, 1989 PubMed
  2. Cürük MA, Yüregir GT, Asadov CD, Dadasova T, Gu LH, Baysal E, Gu YC, Ribeiro ML, Huisman TH, Molecular characterization of beta-thalassemia in Azerbaijan., Human genetics, 90(4), 417-9, 1992 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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