IthaID: 3473
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs10478813 | HGVS Name: | NG_008750.1:g.47471C>G |
Also known as:
Comments: SNP associated with acute chest syndrome in patients from the Cooperative Study of Sickle Cell Disease (CSSCD, n=1514). The association was not replicated in two other SCD cohorts, including independent patients from CSSCD.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | Acute chest syndrome |
Location
| Chromosome: | 5 |
|---|---|
| Locus: | NG_008750.1 |
| Locus Location: | 47471 |
| Size: | 1 bp |
| Located at: | FBN2 |
| Specific Location: | Intron 5 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | African-American |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Nistala H, Lee-Arteaga S, Smaldone S, Siciliano G, Carta L, Ono RN, Sengle G, Arteaga-Solis E, Levasseur R, Ducy P, Sakai LY, Karsenty G, Ramirez F, Fibrillin-1 and -2 differentially modulate endogenous TGF-β and BMP bioavailability during bone formation., J. Cell Biol., 190(6), 1107-21, 2010
- Davis MR, Summers KM, Structure and function of the mammalian fibrillin gene family: implications for human connective tissue diseases., Mol. Genet. Metab., 107(4), 635-47, 2012
- Zin A, Gole GA, Retinopathy of prematurity-incidence today., Clin Perinatol, 40(2), 185-200, 2013
Created on 2019-10-04 09:05:09,
Last reviewed on (Show full history)
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