IthaID: 3944

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 64 (+G) HGVS Name: HBB:c.194dup
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Found as a novel mutation in a 46-year-old male in compound heterozygosity with HbE and in association with anti-3.7 and anti-4.2 (six α genes). The C duplication causes a frameshift that introduces a premature stop codon eight amino acids further down the new reading frame (codon 72 of the HBB gene).

External Links

No available links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70918
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

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

Sequence Viewer

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Publications / Origin

  1. Huang J, Ding L, Chen J, Chen S, Tian P, Xie J, Huang X, Xin X, Characterization of a novel HBB:c.194dup variant of the -globin gene combined with six alpha genes., J Int Med Res, 50(5), 3000605221099013, 2022 PubMed
Created on 2022-07-14 10:43:10, Last reviewed on 2022-07-14 10:50:45 (Show full history)

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