IthaID: 160


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 53 (-T) HGVS Name: HBB:c.162delT
Hb Name: N/A Protein Info: N/A

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70886
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: Chinese
Molecular mechanism: N/A
Inheritance: Dominant
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Yi P, Yu F, Huang S, Zhong C, Li Q, Yang Y, Zhang W, Xiao C, Xu X, Identification of a novel frameshift mutation at codon 53 (-T) in the beta-globin gene causing dominantly inherited beta-thalassemia in a Chinese Miao family., Blood cells, molecules & diseases, 41(1), 56-9, 2008
Created on 2010-06-16 16:13:15, Last reviewed on 2020-04-29 22:24:49 (Show full history)

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