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: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: Found with in trans CD 26 G>A (βE) in a 25-year-old female with Hb E/beta-thalassemia.
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
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
Created on 2023-04-06 15:02:12,
Last reviewed on (Show full history)
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