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.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | N/A |
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 |
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
Publications / Origin
- 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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