IthaID: 345
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -α3.7;Init CD ATG>GTG | HGVS Name: | NG_000006.1:g.[33776A>G;34247_38050del] |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Inititiation codon ATG>GTG change found on a chromosome that carries the -3.7 kb deletion (-α3.7). HGVS name reports deletion breakpoints in -α3.7 (type I) [IthaID: 300] and should be used with caution.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 33776 or 34247 |
| Size: | 1 bp or 3.804 kb |
| Located at: | α2, α3.7 hybrid |
Other details
| Type of Mutation: | Combination |
|---|---|
| Ethnic Origin: | African |
| 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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Frequencies
Publications / Origin
- Olivieri NF, Chang LS, Poon AO, Michelson AM, Orkin SH, An alpha-globin gene initiation codon mutation in a black family with HbH disease., Blood, 70(3), 729-32, 1987 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2024-03-08 10:46:52 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-06-04 11:24:21 | The IthaGenes Curation Team | Reviewed. HbVar link added. |
| 4 | 2020-10-02 10:44:33 | The IthaGenes Curation Team | Reviewed. Comment added. Location corrected. |
| 5 | 2024-03-06 14:08:04 | The IthaGenes Curation Team | Reviewed. |
| 6 | 2024-03-06 15:01:12 | The IthaGenes Curation Team | Reviewed. |
| 7 | 2024-03-06 15:03:12 | The IthaGenes Curation Team | Reviewed. |
| 8 | 2024-03-08 10:46:52 | The IthaGenes Curation Team | Reviewed. Comment updated |
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IthaGenes was last updated on 2024-11-20 13:24:07