IthaID: 3702
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs2246809 | HGVS Name: | NC_000012.12:g.10404445A>G |
Context nucleotide sequence:
ACATAGCTATAAATAAAAACACAGT [A>G] TAATCTCCTGTGCATTAATAAATTTAA (Strand: -)
Also known as:
Comments: The 'A' allele associated with a lower frequency of retinopathy in a cohort of sickle cell disease patients (mainly from sub-Saharan Africa).
External Links
Location
| Chromosome: | 12 |
|---|---|
| Locus: | NM_001199805.1 |
| Locus Location: | N/A |
| Size: | 1 bp |
| Located at: | KLRC4-KLRK1 |
| Specific Location: | Intron 4 |
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | Retinopathy [HP:0000488] |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | African |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | No |
Sequence Viewer
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Publications / Origin
- Tozatto-Maio K, Girot R, Ly ID, Silva Pinto AC, Rocha V, Fernandes F, Diagne I, Benzerara Y, Dinardo CL, Soler JP, Kashima S, Araujo IL, Kenzey C, Fonseca GHH, Rodrigues ES, Volt F, Jarduli L, Ruggeri A, Mariaselvam C, Gualandro SFM, Rafii H, Cappelli B, Nogueira FM, Scigliuolo GM, Guerino-Cunha RL, Malmegrim KCR, Simões BP, Gluckman E, Tamouza R, Polymorphisms in Inflammatory Genes Modulate Clinical Complications in Patients With Sickle Cell Disease., Front Immunol, 11(0), 2041, 2020 PubMed
Created on 2020-11-17 16:13:48,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2020-11-17 16:13:48 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2021-01-15 14:32:59