IthaID: 2148
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs2182008 | HGVS Name: | NG_012003.1:g.87205T>C |
Context nucleotide sequence:
GGATGCTGGCAGAAAAAGGCGTAGC [A/G] TTGGAAGGAGTGTTTAGACAGAATG (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 treatment [PMID: 17299377]. It also associated with elevated HbF levels among non transfusion-dependent β-thal (NTDT) patients of Hellenic (Greek) origin in two independent studies [PMID: 31039620]. In silico analysis showed that this intronic variant causes no significant splicing motif alteration.
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: | 13 |
|---|---|
| Locus: | NG_012003.1 |
| Locus Location: | 87205 |
| Size: | 1 bp |
| Located at: | FLT1 |
| Specific Location: | Intron 10 |
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
Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI.
Therefore, IthaGenes has no responsibility over any temporary unavailability of the service.
In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
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
- 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 2013-09-27 14:41:04,
Last reviewed on 2019-05-28 12:18:10 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2013-09-27 14:41:04 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2016-05-12 16:09:51 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2019-05-28 11:45:19 | The IthaGenes Curation Team | Reviewed. Reference and Ethnic origin added, Comment updated. |
| 5 | 2019-05-28 11:45:47 | The IthaGenes Curation Team | Reviewed. |
| 6 | 2019-05-28 12:14:23 | The IthaGenes Curation Team | Reviewed. Comment updated. |
| 7 | 2019-05-28 12:18:10 | The IthaGenes Curation Team | Reviewed. Clinical phenotype added. |
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.
IthaGenes was last updated on 2024-11-20 13:24:07