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.

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

Sequence Viewer

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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)

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