IthaID: 4085


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 132 (+T) HGVS Name: HBA2:c.398dup
Hb Name: Hb Balkh Protein Info: N/A

Also known as:

Comments: Found together with the -α3.7 allele in a transfusion-dependent individual from Mazar-i-Sharif city, Balkh province, Afghanistan.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34432
Size: 1 bp
Located at: α2
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Afghan
Molecular mechanism: N/A
Inheritance: Dominant
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

To the best of our knowledge, this is unpublished data.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

Microattributions

A/AContributor(s)DateComments
1Tavassoli, Shabnam2023-11-29First report.
Created on 2023-12-04 15:18:20, Last reviewed on 2023-12-04 15:31:40 (Show full history)

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