IthaID: 3157
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs45496295 | HGVS Name: | NG_009617.1:g.6420G>A |
Context nucleotide sequence:
GCCTGGAGGGGAAGGCACGGAGAGA [C/T] GGAGAGGTGAGGGCTGGCCAGGAGG (Strand: +)
Also known as:
Comments: SNP (T allele) associated with a lower transfusion regimen and a higher pre-transfusion Hb level in Tunisian patients with β-thalassaemia.
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: | Anaemia [HP:0001903] |
Location
| Chromosome: | 14 |
|---|---|
| Locus: | NG_009617.1 |
| Locus Location: | 6420 |
| Size: | 1 bp |
| Located at: | CEBPE |
| Specific Location: | Intron 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Tunisian |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Mejri A, Mansri M, Hadj Fredj S, Ouali F, Bibi A, Hafsia R, Messaoud T, Siala H, First description of the rs45496295 polymorphism of the C/EBPE gene in β-thalassemia intermedia patients., Hemoglobin , 2016
Created on 2017-01-30 16:12:49,
Last reviewed on (Show full history)
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