IthaID: 3018



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: --NOR HGVS Name: NG_000006.1:g.31541_44948del13408
Hb Name: N/A Protein Info: N/A

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 31541
Size: 13.408 kb
Deletion involves: α2, α1

Phenotype

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

Other details

Type of Mutation: Deletion
Ethnic Origin: Norwegian
Inheritance: Recessive
DNA Breakpoint Determined: Yes
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data.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

Created on 2016-08-25 12:58:17, Last reviewed on 2016-08-25 15:29:21 (Show full history)

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