IthaID: 3179
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs833068 | HGVS Name: | NG_008732.1:g.9575G>A |
Context nucleotide sequence:
GACATGTCCCATTTGTGGGAACTGT [A/G] ACCCTTCCTGTGTGAGCTGGAGGCA (Strand: +)
Also known as: G398A
Comments: SNP associated with vaso-occlusive crisis in Bahraini with sickle cell anaemia.
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: | Vaso-occlusive crisis |
Location
| Chromosome: | 6 |
|---|---|
| Locus: | NG_008732.1 |
| Locus Location: | 9575 |
| Size: | 1 bp |
| Located at: | VEGFA |
| Specific Location: | Intron 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Bahraini |
| 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
- Al-Habboubi HH, Mahdi N, Abu-Hijleh TM, Abu-Hijleh FM, Sater MS, Almawi WY, The relation of vascular endothelial growth factor (VEGF) gene polymorphisms on VEGF levels and the risk of vasoocclusive crisis in sickle cell disease., Eur. J. Haematol. , 89(5), 403-9, 2012 PubMed
Created on 2017-02-14 14:45:52,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2017-02-14 14:45:52 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-11-20 13:24:07