IthaID: 3550
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs3191333 | HGVS Name: | NG_033271.1:g.10912C>T |
Context nucleotide sequence:
CCACAGCCTGGCACGAAGGCCCCG [C>T] CTGGGTTAGGTGACTAAAAGGGC (Strand: -)
Also known as:
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].
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: |
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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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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 PubMed
- 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 PubMed
Created on 2019-12-18 18:07:52,
Last reviewed on 2020-04-30 19:54:56 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2019-12-18 18:07:52 | The IthaGenes Curation Team | Created |
| 2 | 2020-04-30 19:54:56 | The IthaGenes Curation Team | Reviewed. Variant context sequence, Comment, Phenotype, Ethnicity and Reference added. |
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IthaGenes was last updated on 2024-04-18 10:10:45