IthaID: 2641
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs16996672 | HGVS Name: | NG_011884.2:g.63094G>A |
Context nucleotide sequence:
GCCATATACATAGATCCACACAAGG [C/T] ACACAGCTGCACACGCATTCACAGA (Strand: +)
Also known as:
Comments: SNP associated with proteinuria 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 (n=521). Also associated with focal segmental glomerulosclerosis (FSGS) in African American individuals with SCD (56 cases; 1759 controls).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: |
Proteinuria [HP:0000093] Focal segmental glomerulosclerosis [HP:0000097] |
Location
| Chromosome: | 22 |
|---|---|
| Locus: | NG_011884.2 |
| Locus Location: | 63094 |
| Size: | 1 bp |
| Located at: | MYH9 |
| 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 |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Genovese G, Tonna SJ, Knob AU, Appel GB, Katz A, Bernhardy AJ, Needham AW, Lazarus R, Pollak MR, A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9., Kidney Int. , 78(7), 698-704, 2010 PubMed
- 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 2016-05-10 16:16:30,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-05-10 16:16:30 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-11-20 13:24:07