IthaID: 2274
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs10483801 | HGVS Name: | NG_011964.1:g.35428C>A |
Context nucleotide sequence:
AAGTGGGAATGCAGTTTGGCTAGTG [A/C] AAGTGGCAGATTTCCTCTGCCTTCA (Strand: +)
Also known as:
Comments: SNP associated with changes in HbF levels in sickle cell anaemia patients of African-American origin (MSH cohort) in response to hydroxyurea (HU) treatment [PMID: 17299377]. It also associated with elevated HbF levels in Hb S/β-thal patients after HU treatment and in non-transfusion-dependent β-thal (NTDT) patients of Hellenic (Greek) origin in two independent studies [PMID: 31039620]. In silico analysis showed that thia variant lies at a putative binding site for hsa-miR-3928-3p.
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] Hb F response to hydroxyurea |
Location
| Chromosome: | 14 |
|---|---|
| Locus: | NG_011964.1 |
| Locus Location: | 35428 |
| Size: | 1 bp |
| Located at: | ARG2 |
| Specific Location: | Intron 7 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | African American, 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
- Ma Q, Wyszynski DF, Farrell JJ, Kutlar A, Farrer LA, Baldwin CT, Steinberg MH, Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea., Pharmacogenomics J. , 7(6), 386-94, 2007 PubMed
- Green NS, Barral S, Emerging science of hydroxyurea therapy for pediatric sickle cell disease., Pediatr. Res. , 75(1), 196-204, 2014 PubMed
- Kolliopoulou A, Siamoglou S, John A, Sgourou A, Kourakli A, Symeonidis A, Vlachaki E, Chalkia P, Theodoridou S, Ali BR, Katsila T, Patrinos GP, Papachatzopoulou A, Role of Genomic Biomarkers in Increasing Fetal Hemoglobin Levels Upon Hydroxyurea Therapy and in β-Thalassemia Intermedia: A Validation Cohort Study., Hemoglobin, 2019 PubMed
Created on 2013-10-07 15:40:05,
Last reviewed on 2019-05-28 12:17:06 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2013-10-07 15:40:05 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2016-05-12 17:04:40 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2016-05-24 19:26:55 | The IthaGenes Curation Team | Reviewed. |
| 5 | 2016-05-24 19:28:24 | The IthaGenes Curation Team | Reviewed. |
| 6 | 2016-05-24 19:30:02 | The IthaGenes Curation Team | Reviewed. |
| 7 | 2019-05-28 12:17:06 | The IthaGenes Curation Team | Reviewed. Reference, Clinical phenotype and Ethnic origin added. Comment updated. |
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IthaGenes was last updated on 2024-11-20 13:24:07