IthaID: 3829
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs366257 | HGVS Name: | NC_000011.10:g.5469313C>T |
Context nucleotide sequence:
TGTTGCCCAGGAAGGAAATAGCA [C>T] AAAGCAGCAGCAGAAGGGCAGCC (Strand: +)
Also known as:
Comments: Associated with disease severity in Thai individuals with β0-thalassaemia/HbE (p 2.3E-4, Bonf. p 1.7E-1, FDR 0.003).
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: | Severity [HP:0012824] |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Thai |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- 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
Created on 2021-07-16 14:45:08,
Last reviewed on (Show full history)
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