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

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To the best of our knowledge, this is unpublished data.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

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.