IthaID: 2596
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs2836430 | HGVS Name: | NG_029732.1:g.189152A>C |
Context nucleotide sequence:
GGTCACTTAATTTATCACTCAGGCA [G/T] GAGCTTTCTTTAGCATCAGTTCATG (Strand: +)
Also known as:
Comments: SNP associated with osteonecrosis in the Cooperative Study of Sickle Cell Disease (CSSCD) (442 cases; 455 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: | Osteonecrosis/Avascular necrosis [HP:0010885] [OMIM:608805] |
Location
| Chromosome: | 21 |
|---|---|
| Locus: | NG_029732.1 |
| Locus Location: | 189152 |
| Size: | 1 bp |
| Located at: | ERG |
| Specific Location: | Intron |
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
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Created on 2016-05-09 16:28:20,
Last reviewed on (Show full history)
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