IthaID: 3285
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs11759328 | HGVS Name: | NC_000006.12:g.129691228C>T |
Context nucleotide sequence:
CAACATAAACACACACTTTCCCTAA [C/T] CTTATGCCTTGATAAAGACTACACA (Strand: +)
Also known as:
Comments: SNP associated with increased HbF levels in a Chinese cohort of patients with β-thalassaemia, as well as in Thai cohort with heterozygous and homozygous haemoglobin E (HbE).
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] |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Chinese, Thai |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- He Y, Luo J, Chen Y, Zhou X, Yu S, Jin L, Xiao X, Jia S, Liu Q, ARHGAP18 is a novel gene under positive natural selection that influences HbF levels in β-thalassaemia., Mol. Genet. Genomics , 2017
- Jomoui W, Tepakhan W, Yamsri S, Srivorakun H, Fucharoen G, Fucharoen S, A novel SNP rs11759328 on Rho GTPase-activating protein 18 gene is associated with the expression of Hb F in hemoglobin E-related disorders., Ann. Hematol., 99(1), 23-29, 2020
Created on 2017-12-14 17:35:21,
Last reviewed on 2020-07-02 09:12:22 (Show full history)
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