IthaID: 3343
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs743811 | HGVS Name: | NC_000022.10:g.35792974T>C |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
TTTTACTAATAGGAGAATGGCTGAA [A/C/T] AATTTTTTCCTATCAATTGTCGAAC (Strand: +)
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
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: |
Abnormal GFR [HP:0012212] Albuminuria [HP:0012592] |
Location
| 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
Publications / Origin
- 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
- 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
Created on 2018-08-23 19:31:04,
Last reviewed on 2020-06-26 13:34:32 (Show full history)
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