IthaID: 4023
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 26 GAG>AAG, IVS I-7 A>T | HGVS Name: | HBB:c.[79G>A;92+7A>T] |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Found with in trans CD 26 G>A (βE) in a 25-year-old female with Hb E/beta-thalassemia.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia, β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70673 or 70693 |
| Size: | 1 bp or 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Thai |
| 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
- Hantaweepant C, Suktitipat B, Pithukpakorn M, Chinthammitr Y, Limwongse C, Tansiri N, Sawatnatee S, Takpradit C, Rotchanapanya W, Pongudom S, Charoenprasert K, Paiboonsukwong K, Thamprasert W, Nolwachai N, Rattanasawat W, Sae-Aeng B, Khorwanichakij N, Saetow P, Saengboon S, Kamjornpreecha K, Pholmoo W, Dujjawan B, Siritanaratkul N, Whole exome sequencing and rare variant association study to identify genetic modifiers, mutations, and a novel double mutation in Thai patients with hemoglobin E/beta-thalassemia., Hematology, 28(1), 2187155, 2023 PubMed
Created on 2023-04-06 15:02:12,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2023-04-06 15:02:12 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-04-18 10:10:45