IthaID: 3904
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs190103771 | HGVS Name: | NC_000003.12:g.175698311A>G |
Context nucleotide sequence:
ATGTATGTATACATATATATGTGTATAT [A>G] TGTATGTGTATTTATGTATGTGTATATA (Strand: +)
Also known as:
Comments: SNV associated with priapism in a patient sample from the REDS-III Brazil SCD cohort. The minor allele had a protective effect against priapism.
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: | 3 |
|---|---|
| Locus: | NM_207015.3 |
| Locus Location: | N/A |
| Size: | 1 bp |
| Located at: | NAALADL2 |
| Specific Location: | Intron 11 |
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
- Cintho Ozahata M, Page GP, Guo Y, Ferreira JE, Dinardo CL, Carneiro-Proietti ABF, Loureiro P, Mota RA, Rodrigues DOW, Belisario AR, Maximo C, Flor-Park MV, Custer B, Kelly S, Sabino EC, , Clinical and Genetic Predictors of Priapism in Sickle Cell Disease: Results from the Recipient Epidemiology and Donor Evaluation Study III Brazil Cohort Study., J Sex Med, 16(12), 1988-1999, 2019
Created on 2022-03-24 16:48:10,
Last reviewed on (Show full history)
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