IthaID: 2067
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs7557939 | HGVS Name: | NG_011968.1:g.64287C>T |
Context nucleotide sequence:
TACATCCTTGAGCTACACAGGCTAA [A/G] CAAGAGTGAGAGAGGGTGATGCTGA (Strand: +)
Also known as:
Comments: Associated with elevated HbF in the Cooperative Study of Sickle Cell Disease (CSSCD) (n=1275), as well as in an independent study sample acquired from the CSSCD, the Comprehensive Sickle Cell Centers Collaborative Data (CDATA) study, and the Thomas Jefferson University (n=254). Associated with HbF levels in individuals from Brazil with sickle cell disease (n=350). Associated with fewer pain events at baseline and after HU treatment in young patients with SCA (BABY HUG cohort), and with higher Hb levels at study entry [PMID: 23606168]. Associated with HbF levels, as well as risk of painful episodes in a pediatric cohort with sickle cell anemia from southeastern Brazil (n=250).
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] Pain [HP:0012531] Anaemia [HP:0001903] |
Location
| Chromosome: | 2 |
|---|---|
| Locus: | NG_011968.1 |
| Locus Location: | 64287 |
| Size: | 1 bp |
| Located at: | BCL11A |
| Specific Location: | Intron 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | African American, Brazilian |
| 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
- Lettre G, Sankaran VG, Bezerra MA, Araújo AS, Uda M, Sanna S, Cao A, Schlessinger D, Costa FF, Hirschhorn JN, Orkin SH, DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease., Proc. Natl. Acad. Sci. U.S.A. , 105(33), 11869-74, 2008 PubMed
- Sheehan VA, Luo Z, Flanagan JM, Howard TA, Thompson BW, Wang WC, Kutlar A, Ware RE, , Genetic modifiers of sickle cell anemia in the BABY HUG cohort: influence on laboratory and clinical phenotypes., Am. J. Hematol. , 88(7), 571-6, 2013 PubMed
- Green NS, Ender KL, Pashankar F, Driscoll C, Giardina PJ, Mullen CA, Clark LN, Manwani D, Crotty J, Kisselev S, Neville KA, Hoppe C, Barral S, Candidate sequence variants and fetal hemoglobin in children with sickle cell disease treated with hydroxyurea., PLoS ONE , 8(2), e55709, 2013 PubMed
- Liu L, Pertsemlidis A, Ding LH, Story MD, Steinberg MH, Sebastiani P, Hoppe C, Ballas SK, Pace BS, A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease., Exp. Biol. Med. (Maywood) , 2016 PubMed
- Sales RR, Belisário AR, Faria G, Mendes F, Luizon MR, Viana MB, Functional polymorphisms of BCL11A and HBS1L-MYB genes affect both fetal hemoglobin level and clinical outcomes in a cohort of children with sickle cell anemia., Ann Hematol, 99(7), 1453-1463, 2020 PubMed
Created on 2013-06-28 11:49:33,
Last reviewed on 2022-03-31 10:41:25 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2013-06-28 11:49:33 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2015-05-11 15:44:14 | The IthaGenes Curation Team | Reviewed. Common name and context sequence corrected. |
| 4 | 2016-05-17 16:32:28 | The IthaGenes Curation Team | Reviewed. |
| 5 | 2016-05-25 11:55:39 | The IthaGenes Curation Team | Reviewed. |
| 6 | 2019-07-02 15:00:38 | The IthaGenes Curation Team | Reviewed. Reference and Clinical phenotype added. Comment updated. |
| 7 | 2019-07-02 15:08:12 | The IthaGenes Curation Team | Reviewed. Clinical phenotype added. Comment updated. |
| 8 | 2019-07-02 15:10:50 | The IthaGenes Curation Team | Reviewed. |
| 9 | 2022-03-30 15:27:53 | The IthaGenes Curation Team | Reviewed. Reference added, Comment updated. |
| 10 | 2022-03-31 10:41:25 | The IthaGenes Curation Team | Reviewed. Comment updated. |
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