IthaID: 4133
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | IVS II-820 C>T | HGVS Name: | HBB:c.316-31C>T |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The c.316-31C>T variant is an intronic variant in the HBB gene, identified in the heterozygous state with Hb 110 g/L, MCV 77 fL and MCH 25.6 pg/cell. It was detected during thalassemia gene testing using flow-through hybridization and gene chip (FHGC) technology and/or electrophoretic and sequencing methods.
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: | 71859 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Intron 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Zhao X, You Z, Deng Y, Zhou Y, Deng D, Quan J, Chen F, Yan Z, Qi Y, Chen L, Xiang F, Zheng W, Zhang R, The distribution and spectrum of thalassemia variants in GUIYANG region, southern China., Orphanet J Rare Dis, 20(1), 56, 2025
Created on 2025-03-12 12:48:07,
Last reviewed on (Show full history)
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