IthaID: 2841
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs35786788 | HGVS Name: | NC_000006.12:g.135097904G>A |
Context nucleotide sequence:
TTACAGTTTTTTCACAAGCAACCCT [A/G] CTGTATTTCTGTGCACAGATATAGT (Strand: +)
Also known as:
Comments: The A allele associated with HbF levels in individuals from Tanzania and Kuwait with sickle cell disease (SCD). The A allele associated with increased HbF levels in pediatric patients with sickle cell anemia (SCA) from southeastern Brazil (n=240).
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] |
Location
| Chromosome: | 6 |
|---|---|
| Locus: | NT_025741.15 |
| Locus Location: | N/A |
| Size: | 1 bp |
| Located at: | HBS1L-MYB |
| Specific Location: | N/A |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Tanzanian, Kuwaiti, 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
- Mtatiro SN, Mgaya J, Singh T, Mariki H, Rooks H, Soka D, Mmbando B, Thein SL, Barrett JC, Makani J, Cox SE, Menzel S, Genetic association of fetal-hemoglobin levels in individuals with sickle cell disease in Tanzania maps to conserved regulatory elements within the MYB core enhancer., BMC Med. Genet. , 16(0), 4, 2015 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
- Akbulut-Jeradi N, Fernandez MJ, Al Khaldi R, Sukumaran J, Adekile A, Unique Polymorphisms at , and Loci Associated with HbF in Kuwaiti Patients with Sickle Cell Disease., J Pers Med, 11(6), , 2021 PubMed
Created on 2016-05-17 15:06:41,
Last reviewed on 2022-03-30 15:38:50 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-05-17 15:06:41 | The IthaGenes Curation Team | Created |
| 2 | 2018-11-20 19:30:28 | The IthaGenes Curation Team | Reviewed. Locus added. |
| 3 | 2021-09-23 16:56:31 | The IthaGenes Curation Team | Reviewed. Reference and Ethnic origin added. Comment updated. |
| 4 | 2022-03-30 15:38:50 | The IthaGenes Curation Team | Reviewed. Reference and Ethnic origin added, Comment updated. |
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IthaGenes was last updated on 2024-11-20 13:24:07