IthaID: 2815
Names and Sequences
Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
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Common Name: | rs2071348 | HGVS Name: | NG_000007.3:g.54700A>C |
Context nucleotide sequence:
AAAATTTGGTAGAGCAAGGACTATG [A/C] ATAATGGAAGGCCACTTACCATTTG (Strand: -)
Also known as:
Comments: Associated with disease severity and HbF levels in Thai and Indonesian β0-thalassaemia/HbE patients. Associated with higher Hb F levels and a milder β-thal disease phenotype in β-thal patients (major and/or intermedia) of Greek origin.
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] Severity [HP:0012824] |
Location
Chromosome: | 11 |
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Locus: | NG_000007.3 |
Locus Location: | 54700 |
Size: | 1 bp |
Located at: | pseudo β |
Specific Location: | N/A |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
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Effect on Gene/Protein Function: | N/A |
Ethnic Origin: | Thai, Indonesian, 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
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Publications / Origin
- Ma Q, Abel K, Sripichai O, Whitacre J, Angkachatchai V, Makarasara W, Winichagoon P, Fucharoen S, Braun A, Farrer LA, Beta-globin gene cluster polymorphisms are strongly associated with severity of HbE/beta(0)-thalassemia., Clin. Genet. , 72(6), 497-505, 2007 PubMed
- Nuinoon M, Makarasara W, Mushiroda T, Setianingsih I, Wahidiyat PA, Sripichai O, Kumasaka N, Takahashi A, Svasti S, Munkongdee T, Mahasirimongkol S, Peerapittayamongkol C, Viprakasit V, Kamatani N, Winichagoon P, Kubo M, Nakamura Y, Fucharoen S, A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E., Hum. Genet. , 127(3), 303-14, 2010 PubMed
- Sherva R, Sripichai O, Abel K, Ma Q, Whitacre J, Angkachatchai V, Makarasara W, Winichagoon P, Svasti S, Fucharoen S, Braun A, Farrer LA, Genetic modifiers of Hb E/beta0 thalassemia identified by a two-stage genome-wide association study., BMC Med. Genet. , 11(0), 51, 2010 PubMed
- Giannopoulou E, Bartsakoulia M, Tafrali C, Kourakli A, Poulas K, Stavrou EF, Papachatzopoulou A, Georgitsi M, Patrinos GP, A single nucleotide polymorphism in the HBBP1 gene in the human β-globin locus is associated with a mild β-thalassemia disease phenotype., Hemoglobin , 36(5), 433-45, 2012 PubMed
Created on 2016-05-17 10:53:22,
Last reviewed on 2021-07-08 15:56:33 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2016-05-17 10:53:22 | The IthaGenes Curation Team | Created |
2 | 2016-09-27 15:20:28 | The IthaGenes Curation Team | Reviewed. Mutation comment section updated. Reference added. |
3 | 2016-09-27 16:55:01 | The IthaGenes Curation Team | Reviewed. Other details section updated. |
4 | 2016-10-25 12:29:41 | The IthaGenes Curation Team | Reviewed. Mutation comment and other details sections updated. Reference added. |
5 | 2021-07-08 15:56:33 | The IthaGenes Curation Team | Reviewed. Reference and Phenotype added. |
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