IthaID: 3550
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs3191333 | HGVS Name: | NG_033271.1:g.10912C>T |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CCACAGCCTGGCACGAAGGCCCCG [C>T] CTGGGTTAGGTGACTAAAAGGGC (Strand: -)
Comments: Thalassemia intermedia patients (CC) had significantly higher mean pretransfusion Hb after treatment with hydroxyurea (n=12). SCD patients (CC) had a significantly longer interval between transfusion before treatment with hydroxyurea (n=13) [PMID: 28085748]. SNV associated with persistent HbF levels in non-transfusion dependent beta-thalassaemia patients (18 cases, 85 healthy controls) [PMID: 31393228].
External Links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: |
Hb F levels [HP:0011904] [OMIM:141749] Response to hydroxyurea |
Location
| Chromosome: | 8 |
|---|---|
| Locus: | NG_033271.1 |
| Locus Location: | 10912 |
| Size: | 1 bp |
| Located at: | KLF10 |
| Specific Location: | 3'UTR |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Egyptian, Greek |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Elalfy MS, El Sherif NH, Kamal TM, Aly NH, Klf10 Gene, a Secondary Modifier and a Pharmacogenomic Biomarker of Hydroxyurea Treatment Among Patients With Hemoglobinopathies., J. Pediatr. Hematol. Oncol. , 39(3), e155-e162, 2017
- 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 2019-12-18 18:07:52,
Last reviewed on 2020-04-30 19:54:56 (Show full history)
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