IthaID: 3945



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 18.5 kb deletion HGVS Name: NG_000006.1:g.24749_40631del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion was detected by long-read SMRT sequencing and removed HBA1, HBA2, HBM and part of the HBZP1.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 24749
Size: 15.883 kb
Deletion involves: α2, α1, HBM

Other details

Type of Mutation: Deletion
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Zhong Z, Zhong G, Guan Z, Chen D, Wu Z, Yang K, Chen D, Liu Y, Xu R, Chen J, A novel 15.8 kb deletion α-thalassemia confirmed by long-read single-molecule real-time sequencing: Hematological phenotypes and molecular characterization., Clin Biochem, 2022 PubMed
Created on 2022-07-27 12:56:18, Last reviewed on (Show full history)

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