IthaID: 2606

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs284157 HGVS Name: NG_027757.1:g.104640G>A

Context nucleotide sequence:

Also known as:

Comments: SNP associated with osteonecrosis in the Cooperative Study of Sickle Cell Disease (CSSCD) (442 cases; 455 controls). Associated with acute chest syndrome in individuals with sickle cell disease.

External Links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Acute chest syndrome
Osteonecrosis/Avascular necrosis [HP:0010885] [OMIM:608805]


Chromosome: 1
Locus: NG_027757.1
Locus Location: 104640
Size: 1 bp
Located at: TGFBR3
Specific Location: Intron 3

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. Lanson Y, Reignoux J, Jobard P, Vandooren M, Rouleau P, Soret JY, [Osteogenic sarcoma of the kidney. Apropos of a case. Review of the literature]., J Urol Nephrol (Paris) , 84(10), 827-34, 1978 PubMed
Created on 2016-05-09 17:44:10, Last reviewed on 2019-08-09 14:36:35 (Show full history)

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