IthaID: 3928
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | IVS II-752 T>G | HGVS Name: | HBB:c.316-99T>G |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
TATCCCAACCATAAAATAAAAGCAG [T>G] ATGGTAGCTGGATTGTAGCTGCTAT (Strand: -)
Also known as:
Comments: Detected during thalassaemia screening in a Vietnamese cohort with microcytic hypochromic anemia.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
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: | 71791 |
| 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: | Vietnamese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Xinh PT, Chuong HQ, Ha NTT, Tram HDB, Van Dong C, Thanh LVH, Hoa NTH, Nghia H, Binh NT, Dung PC, Vu HA, Spectrum of HBB gene mutations among 696 β-thalassemia patients and carriers in Southern Vietnam., Mol Biol Rep, 49(4), 2601-2606, 2022 PubMed
Created on 2022-05-12 11:30:16,
Last reviewed on 2022-05-12 14:26:03 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2022-05-12 11:30:16 | The IthaGenes Curation Team | Created |
| 2 | 2022-05-12 14:26:03 | The IthaGenes Curation Team | Reviewed. Paper added. |
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IthaGenes was last updated on 2024-11-20 13:24:07