IthaID: 2787
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs4808793 | HGVS Name: | NC_000019.10:g.18383027G>C |
Context nucleotide sequence:
ACATGCAGACACCCACACACACCCA [C/G] TATCTGCCGGACAGGGCAGCCCTTC (Strand: +)
Also known as:
Comments: SNP associated with increased GDF15 levels, which had a suppressive effect on serum hepcidin levels in β-thalassaemia patients from India (n=134).
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: | Abnormal hepcidin level [HP:0031875] |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | 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
- Athiyarath R, George B, Mathews V, Srivastava A, Edison ES, Association of growth differentiation factor 15 (GDF15) polymorphisms with serum GDF15 and ferritin levels in β-thalassemia., Ann. Hematol. , 93(12), 2093-5, 2014 PubMed
Created on 2016-05-16 15:18:15,
Last reviewed on 2016-09-12 12:48:52 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-05-16 15:18:15 | The IthaGenes Curation Team | Created |
| 2 | 2016-09-12 12:48:52 | The IthaGenes Curation Team | Reviewed. Comment updated. Clinical phenotype added. |
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IthaGenes was last updated on 2024-04-18 10:10:45