IthaID: 3588



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --OY HGVS Name: NC_000016.10:g.0_318539del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Female with microcytic anaemia but was otherwise normal.

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: N/A
Size: 318539 kb
Deletion involves: HS40, ζ, α2, α1

Other details

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

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data.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

Created on 2020-05-18 12:45:14, Last reviewed on (Show full history)

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