IthaID: 390
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 93-99 (+21 bp) | HGVS Name: | HBA1:c.280_300ins21 |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Found in an Iranian family both as a heterozygote (father) and compound heterozygote with -α3.7 deletion (proband and his sister). The proband was investigated for chronic hypochromic microcytic anaemia. No abnormal haemoglobin molecules were detected, hence unstable variant.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α+/α0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37976 |
| Size: | 21 bp |
| Located at: | α1 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Insertion) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Iranian |
| 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
- Waye JS, Eng B, Patterson M, Carcao MD, Chang L, Olivieri NF, Chui DH, Identification of two new alpha-thalassemia mutations in exon 2 of the alpha1-globin gene., Hemoglobin, 25(4), 391-6, 2001 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-09-08 15:39:53 (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 | 2020-08-10 10:07:32 | The IthaGenes Curation Team | Reviewed. Comment added. Location edited. |
| 4 | 2021-09-08 15:39:53 | The IthaGenes Curation Team | Reviewed. Type of mutation corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07