IthaID: 2562

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: (αα)HS40del HGVS Name: chr16:g.(?_103,625)_163,701_193,676)del
Hb Name: N/A Protein Info: N/A

Also known as: hg19 chr16:g.(?_103625)_(163701_193676)del

Comments: Deletion of alpha globin regulatory region (HS40)

External Links


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


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

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To the best of our knowledge, this is unpublished data.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 2015-12-02 11:41:23 (Show full history)

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