IthaID: 3584
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs2236599 | HGVS Name: | NC_000009.12:g.107487224C>T |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
TGAAGAAGGTGGGGTGAGCATCAT [C>T] CCGTGTGTCCCGAAGTGGGGCCAG (Strand: +)
Comments: SNV associated with hydroxyurea treatment efficacy in sickle cell disease/β-thalassaemia compound heterozygous patients (82 cases, 85 healthy controls).
External Links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | Hb F response to hydroxyurea |
Location
| Chromosome: | 9 |
|---|---|
| Locus: | NM_004235.6 |
| Locus Location: | N/A |
| Size: | 1 bp |
| Located at: | KLF4 |
| Specific Location: | Intron 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Greek |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Stratopoulos A, Kolliopoulou A, Karamperis K, John A, Kydonopoulou K, Esftathiou G, Sgourou A, Kourakli A, Vlachaki E, Chalkia P, Theodoridou S, Papadakis MN, Gerou S, Symeonidis A, Katsila T, Ali BR, Papachatzopoulou A, Patrinos GP, Genomic variants in members of the Krüppel-like factor gene family are associated with disease severity and hydroxyurea treatment efficacy in β-hemoglobinopathies patients., Pharmacogenomics, 20(11), 791-801, 2019
Created on 2020-04-30 19:31:19,
Last reviewed on (Show full history)
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