IthaID: 3487

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 15 GGT>GTT [Gly>Val] HGVS Name: HBA2:c.47G>T
Hb Name: Hb Liaoning Protein Info: α2 15(A13) Gly>Val

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Perceived to be haematologically silent. Causes interference during the monitoring of glycated haemoglobin (HbA1c). Identified by matrix assisted laser desorption/ ionization-time of flight mass spectrometry (MALDI-TOF MS). Not detected using CE or ion exchange HPLC.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 33822
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Xu A, Wang Y, Chen W, Liu G, Li X, Li J, Ji L, Detection of a novel hemoglobin variant Hb Liaoning by matrix assisted laser desorption/ionization-time of flight mass spectrometry., Clin. Chem. Lab. Med., 2019 PubMed
Created on 2019-11-05 17:20:48, Last reviewed on 2023-07-13 09:56:23 (Show full history)

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