IthaID: 2104
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs35959442 | HGVS Name: | NC_000006.12:g.135103041C>G |
Context nucleotide sequence:
GGCCCCCCCTCATCACTTCCTGAAG [C/G] CTGCTGTAGACTGCTATAAGAGCGG (Strand: +)
Also known as:
Comments: C>G variation associated with HbF levels under an additive model in individuals from China with β-thalassemia [PMID: 22023465]. The G allele associated with HbF in the high-HbF (>30%) subgroup of Kuwaiti patients with sickle cell disease [PMID: 34204365].
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: | Chinese, Kuwaiti |
| 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
- He Y, Lin W, Luo J, Influences of genetic variation on fetal hemoglobin., Pediatr Hematol Oncol , 28(8), 708-17, 2011 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 2013-09-16 15:06:02,
Last reviewed on 2021-09-23 17:15:52 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2013-09-16 15:06:02 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2016-05-18 11:07:17 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2016-05-18 11:08:13 | The IthaGenes Curation Team | Reviewed. |
| 5 | 2018-11-20 17:45:14 | The IthaGenes Curation Team | Reviewed. Locus added. |
| 6 | 2021-09-23 17:15:52 | 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