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).
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: | Retinopathy [HP:0000488] |
Location
| Chromosome: | 12 |
|---|---|
| Locus: | NM_001199805.1 |
| Locus Location: | N/A |
| Size: | 1 bp |
| Located at: | KLRC4-KLRK1 |
| Specific Location: | Intron 4 |
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 |
In silico pathogenicity prediction
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
Created on 2020-11-17 16:13:48,
Last reviewed on (Show full history)
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