IthaID: 3344



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 107 +G HGVS Name: HBB:c.323dupG
Hb Name: N/A Protein Info: N/A

Comments: This is a beta-thalassaemia mutation found in a lady (38 years old) of possibly Moroccan origin living in The Netherlands. No additional alpha-thal mutations or deletions were detected.

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71897
Size: 1 bp
Located at: β
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: North African, Moroccan
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To the best of our knowledge, this is unpublished data.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, Cornelis2018-08-17first_report.
Created on 2018-11-14 17:07:55, Last reviewed on (Show full history)

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