IthaID: 3567

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 46 GGG>CGG [Gly>Arg] HGVS Name: HBB:c.139G>C
Hb Name: Hb Cenxi Protein Info: β 46(CD5) Gly>Arg

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Reported as a heterozygote in one female individual during routine pregnancy thalassaemia screening (Hb 13.3 g/dL, MCV 81.9 fL, MCH 27.7 pg). The Hb variant was detected by CE but co-elutes with HbA2 by HPLC. Negative isopropanol stability test result.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70863
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Li YQ, Li YW, Liang L, Meng MH, Zhang XQ, First Detection of Hb Cenxi [β46(CD5)Gly→Arg (GG>GG), : c.139G>C] by Capillary Electrophoresis., Hemoglobin, 2020 PubMed
Created on 2020-02-03 09:30:49, Last reviewed on 2020-02-03 09:31:31 (Show full history)

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