IthaID: 3401

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 9 TCT>TTT [Ser>Phe] HGVS Name: HBB:c.29C>T
Hb Name: Hb Hengyang Protein Info: β 9(A6) Ser>Phe

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Its chromatographic profile suggests interference during the monitoring of glycated haemoglobin (HbA1c).

External 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: 70623
Size: 1 bp
Located at: β
Specific Location: Exon 1

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

Publications / Origin

  1. Xu A, Lei J, Li J, Chen W, Zhou Y, Zheng R, Li X, Ji L, Hb Hunan and Hb Hengyang: Two unexpected discoveries during HbA1c measurements., Clin. Chem. Lab. Med., 2019
Created on 2019-04-11 16:36:57, Last reviewed on 2019-04-12 14:05:50 (Show full history)

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