IthaID: 3305



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 126 GCG>-CG HGVS Name: HBA2:c.379delG
Hb Name: N/A Protein Info: N/A

Comments: The mutation causes α+ thalassaemia in carrier.

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34413
Size: 1 bp
Located at: α2
Specific Location: Exon 3

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data.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

Microattributions

A/AContributor(s)DateComments
1L. Harteveld, Cornelis2018-02-05First report.
Created on 2018-02-05 17:43:54, Last reviewed on 2018-02-05 17:49:16 (Show full history)

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