IthaID: 3085
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs200434923 | HGVS Name: | NG_012856.2:g.45214_45218delCCCCA |
Context nucleotide sequence:
GTCCACAGCACCGTGGAGGCCATGC [-/TGGGG] TGGGGTGGGGTGGGGTGGGGTGGGG (Strand: +)
Also known as:
Comments: SNP associated with low hepcidin levels in patients with beta-thalassaemia major (n=130).
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] |
Location
| Chromosome: | 22 |
|---|---|
| Locus: | NG_012856.2 |
| Locus Location: | 45214 |
| Size: | 5 bp |
| Located at: | TMPRSS6 |
| Specific Location: | Intron 17 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Consensus splice site (mRNA Processing) |
| 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, Abraham A, Viswabandya A, Srivastava A, Edison ES, Genetic modifiers of secondary iron overload in beta thalassemia major., Blood Cells Mol. Dis. , 54(3), 242-3, 2015 PubMed
Created on 2016-09-12 16:24:23,
Last reviewed on 2019-07-02 16:32:55 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-09-12 16:24:23 | The IthaGenes Curation Team | Created |
| 2 | 2016-09-12 16:26:10 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2016-09-12 16:33:48 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2016-09-12 16:35:00 | The IthaGenes Curation Team | Reviewed. |
| 5 | 2019-07-02 16:32:55 | The IthaGenes Curation Team | Reviewed. Clinical phenotype removed and Comment updated. |
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IthaGenes was last updated on 2024-04-18 10:10:45