IthaID: 3343

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs743811 HGVS Name: NC_000022.10:g.35792974T>C

Context nucleotide sequence:

Also known as:

Comments: SNP associated with albuminuria, eGFR and chronic kidney disease stage in the University of Illinois SCD cohort (n=247), as well as with end-stage renal disease in the Walk-Treatment of Pulmonary Hypertension and Sickle cell Disease with Sildenafil Therapy cohort (n=540) [PMID: 26206798]. The 'C' allele associated with a decreased risk of albuminuria in a pediatric SCD cohort from Brazil [PMID: 32083326].

External Links

No available links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Abnormal GFR [HP:0012212]
Albuminuria [HP:0012592]


Chromosome: 22
Locus: NG_023030.1
Locus Location: N/A
Size: 1 bp
Located at: HMOX1
Specific Location: N/A

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Saraf SL, Zhang X, Shah B, Kanias T, Gudehithlu KP, Kittles R, Machado RF, Arruda JA, Gladwin MT, Singh AK, Gordeuk VR, Genetic variants and cell-free hemoglobin processing in sickle cell nephropathy., Haematologica , 100(10), 1275-84, 2015 PubMed
  2. Belisário AR, de Almeida JA, Mendes FG, da Silva DMM, Planes W, Rezende PV, Silva CM, Brito AC, Sales RR, Viana MB, Simões E Silva AC, Prevalence and risk factors for albuminuria and glomerular hyperfiltration in a large cohort of children with sickle cell anemia., Am. J. Hematol., 95(5), E125-E128, 2020 PubMed
Created on 2018-08-23 19:31:04, Last reviewed on 2020-06-26 13:34:32 (Show full history)

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