IthaID: 4091

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 79 GAC>AAC [Asp>Asn] HGVS Name: HBD:c.238G>A
Hb Name: Hb A2-Guangxi Protein Info: N/A

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Found as a novel Hb variant in the heterozygous state in a 35-year-old Chinese male. No clinical presentation. Haematology: Hb 16.2 g/dL, RBC 5.16×10^12/L, MCV 91.5 fL, MCH 31.4 pg. Splitting of the Hb A2 peak into two fractions (Hb A2 and Hb A2-Guangxi) on the capillary 2 Flex Piercing device. Hb analysis: Hb A 98% , Hb F 0%, Hb A2 1.3%, Hb A2-Guangxi 0.7%. The electrophoresis position of Hb A2-Guangxi is located at Z1 zone.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: δ-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: 63548
Size: 1 bp
Located at: δ
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

To the best of our knowledge, this is unpublished data.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


1Li, Youqiong2024-01-15First report.
Created on 2024-01-16 10:40:44, Last reviewed on (Show full history)

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