IthaID: 3654
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs7943316 | HGVS Name: | NG_013339.2:g.5001A>T |
Context nucleotide sequence:
TTGGCTGAGCCTGAAGTCGCCACGG [A>T] CTCGGGGCAACAGGCAGATTTGCCT (Strand: +)
Also known as:
Comments: 2KB Upstream Variant; Associated with response to hydroxyurea treatment in patients with sickle cell anaemia based on observed alterations in laboratory biomarkers, including inflammatory parameters.
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: | Response to hydroxyurea |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_013339.2 |
| Locus Location: | 5001 |
| Size: | 1 bp |
| Located at: | CAT |
| Specific Location: | Promoter |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Promoter (Transcription) |
| Ethnic Origin: | Brazilian |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Yahouédéhou SCMA, Neres JSDS, da Guarda CC, Carvalho SP, Santiago RP, Figueiredo CVB, Fiuza LM, Ndidi US, de Oliveira RM, Fonseca CA, Nascimento VML, Rocha LC, Adanho CSA, da Rocha TSC, Adorno EV, Goncalves MS, Sickle Cell Anemia: Variants in the , , and Genes Are Associated With Improved Hydroxyurea Response., Front Pharmacol, 11(0), 553064, 2020
Created on 2020-10-13 12:42:25,
Last reviewed on (Show full history)
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