IthaID: 181

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 76 (-C) HGVS Name: HBB:c.230delC
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:

Also known as:

External Links


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70954
Size: 1 bp
Located at: β
Specific Location: Exon 2


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: Italian
Inheritance: Recessive
DNA Sequence Determined: No

Sequence Viewer

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Publications / Origin

  1. Di Marzo R, Dowling CE, Wong C, Maggio A, Kazazian HH, The spectrum of beta-thalassaemia mutations in Sicily., British journal of haematology, 69(3), 393-7, 1988 PubMed
  2. Giambona A, Lo Gioco P, Marino M, Abate I, Di Marzo R, Renda M, Di Trapani F, Messana F, Siciliano S, Rigano P, The great heterogeneity of thalassemia molecular defects in Sicily., Human genetics, 95(5), 526-30, 1995 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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