IthaID: 3114
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | T8002C | HGVS Name: | N/A |
Also known as:
Comments: The C8002 allele associated with an increased risk of acute chest syndrome in children with sickle cell disease.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | Acute chest syndrome |
Location
| Chromosome: | 6 |
|---|---|
| Locus: | NG_016196.1 |
| Locus Location: | 8002 |
| Size: | 1 bp |
| Located at: | EDN1 |
| Specific Location: | N/A |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Guadeloupean |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Chaar V, Tarer V, Etienne-Julan M, Diara JP, Elion J, Romana M, ET-1 and ecNOS gene polymorphisms andsusceptibility to acute chest syndrome and painful vaso-occlusive crises in children with sickle cell anemia., Haematologica , 91(9), 1277-8, 2006
Created on 2016-09-29 12:32:23,
Last reviewed on 2016-09-29 12:46:51 (Show full history)
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