IthaID: 3374

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 72 AGT>AGA [Ser>Arg]; CD 73 GAT>TAT [Asp>Tyr] HGVS Name: HBB:c.[219T>A;220G>T]
Hb Name: Hb South China Protein Info: β 72(E16) Ser>Arg AND β 73(E17) Asp>Tyr

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:N/A
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70943 or 70944
Size: 1 bp or 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

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Lv J, Luo Z, Fang J, Du T, Xue H, Liu Y, Zhang J, [A novel double heterozygote of HBB c.[219T>A;220G>T]: gene diagnosis and pedigree analysis]., Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 34(4), 538-541, 2017 PubMed
Created on 2019-04-05 14:10:14, Last reviewed on (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.