IthaID: 2606
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs284157 | HGVS Name: | NG_027757.1:g.104640G>A |
Context nucleotide sequence:
ATCTGTTCCCAAATGCTTTGTCTGC [A/G] TTCTGTCGAGTTTTGGAGCTGGCCC (Strand: -)
Also known as:
Comments: SNP associated with osteonecrosis in the Cooperative Study of Sickle Cell Disease (CSSCD) (442 cases; 455 controls). Associated with acute chest syndrome in individuals with sickle cell disease.
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: |
Acute chest syndrome Osteonecrosis/Avascular necrosis [HP:0010885] [OMIM:608805] |
Location
| Chromosome: | 1 |
|---|---|
| Locus: | NG_027757.1 |
| Locus Location: | 104640 |
| Size: | 1 bp |
| Located at: | TGFBR3 |
| 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
- Lanson Y, Reignoux J, Jobard P, Vandooren M, Rouleau P, Soret JY, [Osteogenic sarcoma of the kidney. Apropos of a case. Review of the literature]., J Urol Nephrol (Paris) , 84(10), 827-34, 1978 PubMed
Created on 2016-05-09 17:44:10,
Last reviewed on 2022-09-13 15:05:23 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-05-09 17:44:10 | The IthaGenes Curation Team | Created |
| 2 | 2016-05-23 15:59:07 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2019-08-09 14:36:35 | The IthaGenes Curation Team | Reviewed. Reference removed. |
| 4 | 2022-09-13 15:05:23 | The IthaGenes Curation Team | Reviewed. Reference corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07