IthaID: 3963



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 32.8 kb deletion HGVS Name: NC_000016.10:g.149860_182697del
Hb Name: N/A Protein Info: N/A

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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: 10723
Size: 32.838 kb
Deletion involves: ζ, α2, α1, HBM

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!

Microattributions

A/AContributor(s)DateComments
1Luo, Shiqiang2022-08-17First report.
Created on 2022-09-06 10:28:58, Last reviewed on 2022-09-16 10:30:56 (Show full history)

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