IthaID: 2174

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 24 -G HGVS Name: HBB:c.74delG
Hb Name: N/A Protein Info: N/A

Also known as:

External Links


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70668
Size: 1 bp
Located at: β
Specific Location: Exon 1


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(Substitution)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Iranian
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Salehi R, Fisher CA, Bignell PA, Eslami G, Old JM, Identification of three novel mutations [-41 (A>C), codon 24 (-G), and IVS-I-109 (-T)], in a study of beta-thalassemia alleles in the Isfahan region of Iran., Hemoglobin , 34(1), 115-20, 2010
Created on 2013-09-30 14:44:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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