IthaID: 3876

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 96 CTG>CGG [Leu>Arg] HGVS Name: HBB:c.290T>G
Hb Name: Hb Laibin Protein Info: β 96(FG3) Leu>Arg

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Found in a 29-year-old Chinese male presented with normal hematological indices (Hb 17.5 g/dL, MCV 91.3 fL, MCH 29.6 pg, RBC 5.92×1012/L). HbX and HbF cannot be separated using capillary 2 Flex Piercing device, and both located in Zone 7. The results shown HbA 64.5%, HbF + HbX 32.3% and HbA2 3.2%.

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:β+
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71014
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. Huang YY, Huang J, Ye LH, Liang L, Li YQ, Hb Laibin [β96(FG3)Leu→Arg; : c.290T>G]: A Novel Hemoglobin Variant Described in a Chinese Family., Hemoglobin, 2022 PubMed


1Li, Youqiong2021-11-12First report.
Created on 2021-12-15 13:05:33, Last reviewed on 2022-06-09 08:59:40 (Show full history)

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