IthaID: 3160
Names and Sequences
Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
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Common Name: | rs11036474 | HGVS Name: | NG_000007.3:g.43668A>G |
Context nucleotide sequence:
ATGCCTTCTGCCTGCATCTTTTTAA [C/T] GACCATACTTGTCCTGCCTCCAGAT (Strand: +)
Also known as:
Comments: SNP associated with HbF levels in β-thalassaemia patients from Guangxi, Southern China (493 patients, 500 controls). The T allele associated with HbF levels in Kuwaiti patients with sickle cell disease, specifically in groups with up to 30% HbF but not beyond.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
Allele Phenotype (Cis): | N/A |
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Allele Phenotype (Trans): | N/A |
Associated Phenotypes: | Hb F levels [HP:0011904] [OMIM:141749] |
Location
Chromosome: | 11 |
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Locus: | NG_000007.3 |
Locus Location: | 43668 |
Size: | 1 bp |
Located at: | Gγ |
Specific Location: | Intron 2 |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
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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
- Yi S, Lai Y, Zuo Y, Chen Y, Qin H, Wei Y, Yang Q, Lin L, Luo J, Fan X, Zheng C, Common genetic polymorphisms at three loci affect HbF levels in β-thalassemia patients from Southern China., Blood Cells Mol. Dis. , 62(0), 22-23, 2016 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 2017-01-31 10:28:53,
Last reviewed on 2021-12-21 12:27:00 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2017-01-31 10:28:53 | The IthaGenes Curation Team | Created |
2 | 2021-12-21 12:27:00 | The IthaGenes Curation Team | Reviewed. Reference added. Comment updated. |
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IthaGenes was last updated on 2024-12-12 10:33:52