IthaID: 3097
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs1867504 | HGVS Name: | NG_008673.3:g.196A>G |
Context nucleotide sequence:
CTTAAGCCCATCGTGGTAGAAATCT [A/G] TGGGTCAAAAGATGGTGTGTTCTCC (Strand: +)
Also known as:
Comments: SNP (allele A) associated with increased haemoglobin and serum ferritin concentrations in African ancestry populations.
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] Anaemia [HP:0001903] |
Location
| Chromosome: | 3 |
|---|---|
| Locus: | NG_013080.1 |
| Locus Location: | 196 |
| Size: | 1 bp |
| Located at: | TF |
| Specific Location: | Intron |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Kenyan, Tanzanian, South African, African American |
| 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
- 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 2016-09-14 18:08:51,
Last reviewed on 2019-07-03 23:29:25 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-09-14 18:08:51 | The IthaGenes Curation Team | Created |
| 2 | 2019-07-03 23:29:25 | The IthaGenes Curation Team | Reviewed. Phenotype added. |
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IthaGenes was last updated on 2024-04-18 10:10:45