IthaID: 2562



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: (αα)HS40del HGVS Name: NC_000016.10:g.(?_53625)_(113702_143677)del
Hb Name: N/A Protein Info: N/A

Also known as: deletion of HS-40 region, chr16:g.(?_103625)_(163701_193676)del [GRCh37(hg19)]

Comments: Deletion of alpha globin regulatory region (HS40).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External 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: N/A
Size: 1 bp
Deletion involves: HS40

Other details

Type of Mutation: Deletion
Ethnic Origin: N/A
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: No

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To the best of our knowledge, this is unpublished data.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!

Created on 2015-12-02 11:27:53, Last reviewed on 2021-12-14 14:08:54 (Show full history)

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