IthaID: 2401

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 72 AGT>ACT [Ser>Thr] HGVS Name: HBB:c.218G>C
Hb Name: Hb Phimai Protein Info: β 72(E16) Ser>Thr

Also known as:

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: 70942
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: Thai
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Singsanan S, Srivorakun H, Fucharoen G, Puangplruk R, Fucharoen S, Hb Phimai [β72(E16)Ser→Thr]: a novel β-globin structural variant found in association with Hb constant spring in pregnancy., Hemoglobin , 35(2), 103-10, 2011
Created on 2014-05-27 10:47:15, Last reviewed on (Show full history)

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