IthaID: 56

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 6 (GAG>TAG) HGVS Name: HBB:c.19G>T
Hb Name: N/A Protein Info: N/A

Also known as:

External Links


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70613
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: Nonsense codon (Translation)
Ethnic Origin: Brazilian
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Grignoli CR, Carvalho MH, Kimura EM, Sonati MF, Arruda VR, Saad ST, Costa FF, beta0-thalassemia resulting from a novel mutation: beta66/u-->stop codon., European journal of haematology, 64(2), 137-8, 2000
Created on 2010-06-16 16:13:14, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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