IthaID: 3702
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs2246809 | HGVS Name: | NC_000012.12:g.10404445A>G |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
ACATAGCTATAAATAAAAACACAGT [A>G] TAATCTCCTGTGCATTAATAAATTTAA (Strand: -)
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
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
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)
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