IthaID: 2647
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs2249358 | HGVS Name: | NG_011485.1:g.37594G>A |
Context nucleotide sequence:
TTCAGACTCCATGTTTCAAAATCTA [A/G] ATGGAAGGTAAGAAGGAAGCAAGGA (Strand: +)
Also known as:
Comments: SNP associated with priapism in the Cooperative Study of Sickle Cell Disease (CSSCD) (148 cases; 529 controls) [PMID: 15638863]. The association was not replicated in an independent sample of sickle cell patients acquired from outpatient clinics at Duke University Medical Center, the University of North Carolina Chapel Hill and Emory University (n=199) [PMID: 17408468].
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: | Priapism [HP:0200023] [OMIM:176620] |
Location
| Chromosome: | 13 |
|---|---|
| Locus: | NG_011485.1 |
| Locus Location: | 37594 |
| Size: | 1 bp |
| Located at: | KL |
| Specific Location: | Intron 1 |
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
- Nolan VG, Baldwin C, Ma Q, Wyszynski DF, Amirault Y, Farrell JJ, Bisbee A, Embury SH, Farrer LA, Steinberg MH, Association of single nucleotide polymorphisms in klotho with priapism in sickle cell anaemia., Br. J. Haematol. , 128(2), 266-72, 2005 PubMed
- Elliott L, Ashley-Koch AE, De Castro L, Jonassaint J, Price J, Ataga KI, Levesque MC, Brice Weinberg J, Eckman JR, Orringer EP, Vance JM, Telen MJ, Genetic polymorphisms associated with priapism in sickle cell disease., Br. J. Haematol. , 137(3), 262-7, 2007 PubMed
Created on 2016-05-10 17:02:31,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-05-10 17:02:31 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-11-20 13:24:07