IthaID: 3268



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: 811 bp deletion HGVS Name: NG_000006.1:g.32945_33755
Hb Name: N/A Protein Info: N/A

Comments: The deletion occurs at about 20 bases upstream of the translation initiation codon, with breakpoints localized to positions 32944-33756.

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 32945
Size: 811 bp
Deletion involves: α2

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α⁺
Associated Phenotypes: N/A

Other details

Type of Mutation: Deletion
Ethnic Origin: Chinese
Inheritance: Recessive
DNA Breakpoint Determined: Yes
Detection Methods: Gap-PCR

Sequence Viewer

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Publications / Origin

  1. Zhang Q, Xu M, Zhou W, Fan X, α(+)-Thalassemia Caused by an 811 bp Deletion in Individuals from Nanning, Guangxi: A Report of Two Cases., Hemoglobin , 41(3), 185-188, 2017 PubMed
Created on 2017-10-02 17:55:39, Last reviewed on (Show full history)

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