IthaID: 3097
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs1867504 | HGVS Name: | NG_008673.3:g.196A>G |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CTTAAGCCCATCGTGGTAGAAATCT [A/G] TGGGTCAAAAGATGGTGTGTTCTCC (Strand: +)
Comments: SNP (allele A) associated with increased haemoglobin and serum ferritin concentrations in African ancestry populations.
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
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
Created on 2016-09-14 18:08:51,
Last reviewed on 2019-07-03 23:29:25 (Show full history)
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