IthaID: 3178
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs2010963 | HGVS Name: | NG_008732.1:g.5398C>G |
Context nucleotide sequence:
CGCGCGGGCGTGCGAGCAGCGAAAG [C/G] GACAGGGGCAAAGTGAGTGACCTGC (Strand: +)
Also known as: -634G/C
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: | 5398 |
| Size: | 1 bp |
| Located at: | VEGFA |
| Specific Location: | 5'UTR |
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
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
Created on 2017-02-14 14:42:00,
Last reviewed on 2017-02-14 14:43:27 (Show full history)
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