IthaID: 3625



Names and Sequences

Functionality: Disease modifying mutation
Common Name: rs2154586 HGVS Name: NC_000021.9:g.46603603G>A

Context nucleotide sequence:
TTTACCAGCTTTTGGCCTTGA [G>A] TTCTAATCATTAAATAAGAA (Strand: +)

Also known as:

Comments: The 'A' allele associated with avascular necrosis in adult (Walk-PHaSST) and pediatric (PUSH) cohorts with sickle cell disease.

External Links

Location

Chromosome: 21
Locus: NM_006272.3
Locus Location: N/A
Size: 1 bp
Located at: S100B
Specific Location: Intron 1

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Zhang X, Shah BN, Zhang W, Saraf SL, Nouraie M, Nekhai S, Machado RF, Gladwin MT, Gordeuk VR, S100B has pleiotropic effects on vaso-occlusive manifestations in sickle cell disease., Am. J. Hematol., 95(3), E62-E65, 2020 PubMed
Created on 2020-09-08 12:26:33, Last reviewed on (Show full history)

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