IthaID: 3958


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 8.2 kb deletion HGVS Name: NG_000007.3:g.65147_73407del
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: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 65147
Size: 8.261 kb
Deletion involves: β

Other details

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

In silico pathogenicity prediction

Publications / Origin

To the best of our knowledge, this is unpublished data.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

Microattributions

A/AContributor(s)DateComments
1Luo, Shiqiang2022-08-09First report.
Created on 2022-08-10 08:44:57, Last reviewed on (Show full history)

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