IthaID: 2785
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs12979860 | HGVS Name: | NG_042193.1:g.1825G>A |
Context nucleotide sequence:
TGAACCAGGGAGCTCCCCGAAGGCG [C/T] GAACCAGGGTTGAATTGCACTCCGC (Strand: +)
Also known as:
Comments: SNP is located 3 kb upstream of the IL28B (IFNL3) gene. The C allele has been associated with response to antiviral therapy and spontaneous clearance of Hepatitis C in patients with β-thalassaemia from Italy, Iran and India.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | Response to Hepatitis C treatment |
Location
| Chromosome: | 19 |
|---|---|
| Locus: | NG_042193.1 |
| Locus Location: | 1825 |
| Size: | 1 bp |
| Located at: | IFNL3 |
| Specific Location: | N/A |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Italian, Iranian, Indian |
| 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
- Origa R, Marceddu G, Danjou F, Perseu L, Satta S, Demartis FR, Piga A, Longo F, Lai ME, Vacquer S, Galanello R, IFNL3 polymorphisms and HCV infection in patients with beta thalassemia., Ann Hepatol , 14(3), 389-95, 2015 PubMed
- Behnava B, Sharafi H, Keshvari M, Pouryasin A, Mehrnoush L, Salimi S, Karimi Elizee P, Ghazimoghaddam M, Alavian SM, The Role of Polymorphisms Near the IL28B Gene on Response to Peg-Interferon and Ribavirin in Thalassemic Patients With Hepatitis C., Hepat Mon , 16(1), e32703, 2016 PubMed
- Biswas A, Firdaus R, Gupta D, Ghosh M, Saha K, Chowdhury P, Bhattacharyya M, Sadhukhan PC, Interferon λ3 gene (IL28B) is associated with spontaneous or treatment-induced viral clearance in hepatitis C virus-infected multitransfused patients with thalassemia., Transfusion , 57(6), 1376-1384, 2017 PubMed
Created on 2016-05-16 15:08:03,
Last reviewed on 2019-07-03 22:19:06 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-05-16 15:08:03 | The IthaGenes Curation Team | Created |
| 2 | 2016-08-09 15:29:09 | The IthaGenes Curation Team | Reviewed. Update of mutation characterization. |
| 3 | 2016-08-09 15:44:51 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2017-07-03 10:53:51 | The IthaGenes Curation Team | Reviewed. Mutation Comment and Other Details sections updated. Reference added. |
| 5 | 2017-07-03 11:04:13 | The IthaGenes Curation Team | Reviewed. Mutation comment modified. |
| 6 | 2019-07-03 22:19:06 | The IthaGenes Curation Team | Reviewed. Phenotype added. |
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IthaGenes was last updated on 2024-11-20 13:24:07