IthaID: 3063
Names and Sequences
| Functionality: | Neutral polymorphism | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | IVS II-55 T>G | HGVS Name: | HBA2:c.300+55T>G |
Context nucleotide sequence:
GAGATGGCGCCTTCCTC [T>G] CAGGGCAGAGGATCACGCG (Strand: +)
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Allele Phenotype: | Neutral |
|---|---|
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34247 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Intron 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Iranian |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| 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
- Harteveld KL, Heister AJ, Giordano PC, Losekoot M, Bernini LF, Rapid detection of point mutations and polymorphisms of the alpha-globin genes by DGGE and SSCA., Hum. Mutat. , 7(2), 114-22, 1996 PubMed
- Tamaddoni A, Hadavi V, Nejad NH, Khosh-Ain A, Siami R, Aghai-Meibodi J, Almadani N, Oberkanins C, Law HY, Najmabadi H, alpha-Thalassemia mutation analyses in Mazandaran province, North Iran., Hemoglobin , 33(2), 115-23, 2009 PubMed
- Bayat N, Farashi S, Hafezi-Nejad N, Faramarzi N, Ashki M, Vakili S, Imanian H, Khosravi M, Azar-Keivan A, Najmabadi H, Novel mutations responsible for α-thalassemia in Iranian families., Hemoglobin , 37(2), 148-59, 2013 PubMed
Created on 2016-09-06 11:55:05,
Last reviewed on 2018-05-16 18:56:21 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-09-06 11:55:05 | The IthaGenes Curation Team | Created |
| 2 | 2016-09-06 11:58:25 | The IthaGenes Curation Team | Reviewed. Comment added. |
| 3 | 2017-09-26 10:25:28 | The IthaGenes Curation Team | Reviewed. HGVS name and allele information corrected. |
| 4 | 2018-05-16 18:13:52 | The IthaGenes Curation Team | Reviewed. Functionality corrected. References added. |
| 5 | 2018-05-16 18:56:21 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-12-03 11:48:06