IthaID: 2187


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 48 -T HGVS Name: HBB:c.146delT
Hb Name: N/A Protein Info: N/A

Also known as:

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70870
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Uruguayan
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Da Luz J, López P, Kimura EM, Albuquerque DM, Costa FF, Sans M, Sonati MF, A new β⁰-thalassemia frameshift mutation [β 48 (-T)] in a Uruguayan family., Int J Lab Hematol , 35(1), 111-4, 2013
Created on 2013-09-30 16:56:58, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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