IthaID: 2922
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs1800797 | HGVS Name: | NG_011640.1:g.4456A>G |
Context nucleotide sequence:
TGAAGTAACTGCACGAAATTTGAGG [A/G] TGGCCAGGCAGTTCTACAACAGCCG (Strand: +)
Also known as: -597G>A
Comments: SNP (A allele) associated with a protective effect against retinopathy in patients with sickle cell anaemia (SCA) from Brazil.
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: | Retinopathy [HP:0000488] |
Location
| Chromosome: | 7 |
|---|---|
| Locus: | NG_011640.1 |
| Locus Location: | 4456 |
| Size: | 1 bp |
| Located at: | IL6 |
| Specific Location: | Promoter |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Promoter (Transcription) |
| Ethnic Origin: | Brazilian |
| 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
- Vicari P, Adegoke SA, Mazzotti DR, Cançado RD, Nogutti MA, Figueiredo MS, Interleukin-1β and interleukin-6 gene polymorphisms are associated with manifestations of sickle cell anemia., Blood Cells Mol. Dis. , 54(3), 244-9, 2015 PubMed
Created on 2016-05-26 12:04:00,
Last reviewed on 2017-07-19 11:01:06 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-05-26 12:04:00 | The IthaGenes Curation Team | Created |
| 2 | 2016-08-17 12:26:51 | The IthaGenes Curation Team | Reviewed. Synonym name added. |
| 3 | 2017-07-19 11:01:06 | The IthaGenes Curation Team | Reviewed. Mutation info, type and location updated. Clinical phenotype added. |
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IthaGenes was last updated on 2024-04-18 10:10:45