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.


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Acute chest syndrome


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

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. 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 PubMed
  2. 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 PubMed
  3. Zin A, Gole GA, Retinopathy of prematurity-incidence today., Clin Perinatol, 40(2), 185-200, 2013 PubMed
Created on 2019-10-04 09:05:09, Last reviewed on (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.