IthaID: 3955
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Siriraj I Gγ(Aγδβ)0 | HGVS Name: | N/A |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as: ~118 kb del
Comments: First reported in two unrelated clinically asymptomatic heterozygous carriers from the southern part of Thailand. More recently, reported in a Malay boy in compound heterozygosity with IVS1-1 (G>T), presented with thalassaemia intermedia.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δβ-thalassaemia |
| Allele Phenotype: | Gγ(Aγδβ)0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | N/A |
| Size: | 118 kb |
| Deletion involves: | Aγ, δ, β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Thai, Malay |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint 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
- Van Gorkom HJ, Pulles MP, Haveman J, Den Haan GA, Primary reactions of photosystem II at low pH. I. Prompt and delayed fluorescence., Biochim Biophys Acta, 423(2), 217-26, 1976 PubMed
- Wong YY, Alauddin H, Raja Sabudin RZA, Ithnin A, Jalil N, Abdul Latiff Z, Loh CK, Alias H, Othman A, Siriraj I γ(γδβ)-thalassaemia causing severe thalassaemia intermedia in compound heterozygous state with IVS1-1(G→T) mutation., Malays J Pathol, 43(1), 95-100, 2021 PubMed
Created on 2022-08-08 13:45:24,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2022-08-08 13:45:24 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-04-18 10:10:45