IthaID: 3122
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs10421768 | HGVS Name: | NG_011563.1:g.4490A>G |
Context nucleotide sequence:
AAGGGTCTGACACTGGGAAAACACC [A/G] CGTGCGGATCGGGCACACGCTGATG (Strand: +)
Also known as:
Comments: SNP (allele A) associated with higher haemoglobin concentration in the Kenyan population [PMID: 27332551]. Variant associated with higher liver iron concentration and serum ferritin levels in poly-transfused β-thalassaemia patients of Middle Eastern descend from Italy [PMID: 19734422]. Not associated with serum iron/transferrin/ferritin levels in the healthy Galician population [PMID: 21143959].
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: |
Increased serum ferritin [HP:0003281] Increased liver iron level [HP:0012465] Anaemia [HP:0001903] |
Location
| Chromosome: | 19 |
|---|---|
| Locus: | NG_011563.1 |
| Locus Location: | 4490 |
| Size: | 1 bp |
| Located at: | HAMP |
| Specific Location: | Intron 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | African, Middle Eastern |
| 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
- Andreani M, Radio FC, Testi M, De Bernardo C, Troiano M, Majore S, Bertucci P, Polchi P, Rosati R, Grammatico P, Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major., Haematologica, 94(9), 1293-6, 2009 PubMed
- Parajes S, González-Quintela A, Campos J, Quinteiro C, Domínguez F, Loidi L, Genetic study of the hepcidin gene (HAMP) promoter and functional analysis of the c.-582A > G variant., BMC Genet., 11(0), 110, 2010 PubMed
- Gichohi-Wainaina WN, Tanaka T, Towers GW, Verhoef H, Veenemans J, Talsma EF, Harryvan J, Boekschoten MV, Feskens EJ, Melse-Boonstra A, Associations between Common Variants in Iron-Related Genes with Haematological Traits in Populations of African Ancestry., PLoS ONE , 11(6), e0157996, 2016 PubMed
Created on 2016-10-06 11:51:51,
Last reviewed on 2019-07-03 23:14:54 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-10-06 11:51:51 | The IthaGenes Curation Team | Created |
| 2 | 2019-07-02 14:25:08 | The IthaGenes Curation Team | Reviewed. References, Phenotype, Ethnic origin added. Comment updated. |
| 3 | 2019-07-02 16:36:16 | The IthaGenes Curation Team | Reviewed. Clinical phenotype added. |
| 4 | 2019-07-03 23:14:54 | The IthaGenes Curation Team | Reviewed. Phenotype added. |
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IthaGenes was last updated on 2024-04-18 10:10:45