IthaID: 3634
Names and Sequences
| Functionality: | Neutral polymorphism | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | IVS II-202 T>A | HGVS Name: | HBB:c.315+202T>A |
Context nucleotide sequence:
TTTTCTTTTGTTTAATTCTTGCT [T>A] TCTTTTTTTTTCTTCTCCGCAA (Strand: -)
Also known as:
Comments: Reported as a neutral polymorphism; found in a homozygous state in a subject with beta-thalassaemia. No genotype information given.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Allele Phenotype: | Neutral |
|---|---|
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71241 |
| Size: | 1 bp |
| Located at: | β |
| 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
- Jalilian M, Azizi Jalilian F, Ahmadi L, Amini R, Esfehani H, Sosanian M, Rabbani B, Maleki M, Mahdieh N, The Frequency of HBB Mutations Among β-Thalassemia Patients in Hamadan Province, Iran., Hemoglobin, 41(1), 61-64, 2017 PubMed
Created on 2020-09-28 16:30:31,
Last reviewed on 2020-09-28 17:01:06 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2020-09-28 16:30:31 | The IthaGenes Curation Team | Created |
| 2 | 2020-09-28 17:01:06 | The IthaGenes Curation Team | Reviewed. Comment. |
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IthaGenes was last updated on 2024-11-20 13:24:07