IthaID: 3374


Names and Sequences

Functionality: Globin gene causative mutation
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:

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70943 or 70944
Size: 1 bp or 1 bp
Located at: β
Specific Location: Exon 2

Phenotype

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

Other details

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

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
Created on 2019-04-05 14:10:14, Last reviewed on (Show full history)

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