IthaID: 3548

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs933224 HGVS Name: NG_011884.2:g.23061A>G

Context nucleotide sequence:

Also known as:

Comments: SNP associated with glomerular filtration rate in individuals with sickle cell disease (SCD) acquired from the Duke University Medical Center, the University of North Carolina at Chapel Hill, the East Carolina University and the Emory University Sickle Cell Centers.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Abnormal GFR [HP:0012212]


Chromosome: 22
Locus: NG_011884.2
Locus Location: 23061
Size: 1 bp
Located at: MYH9
Specific Location: Intron 1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Ashley-Koch AE, Okocha EC, Garrett ME, Soldano K, De Castro LM, Jonassaint JC, Orringer EP, Eckman JR, Telen MJ, MYH9 and APOL1 are both associated with sickle cell disease nephropathy., Br. J. Haematol. , 155(3), 386-94, 2011 PubMed
Created on 2019-12-18 12:42:40, Last reviewed on (Show full history)

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