IthaID: 3640
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs3800569 | HGVS Name: | NC_000007.14:g.138726680C>T |
Context nucleotide sequence:
ATGCCATTATAGGACCATCTCTTGAA [C>T] GGAGGTGGTAATGTTTCCGACACGAA (Strand: +)
Also known as:
Comments: Associated with F-cell levels in a pediatric cohort with sickle cell anaemia from the Silent Cerebral Infarct Transfusion (SIT) Multi-center clinical trial.
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: | F-cell numbers |
Location
| Chromosome: | 7 |
|---|---|
| Locus: | NG_008145.1 |
| Locus Location: | 76517 |
| Size: | 1 bp |
| Located at: | ATP6V0A4 |
| Specific Location: | Intron 18 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | N/A |
| 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
- Bhatnagar P, Purvis S, Barron-Casella E, DeBaun MR, Casella JF, Arking DE, Keefer JR, Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients., J. Hum. Genet. , 56(4), 316-23, 2011 PubMed
Created on 2020-10-05 17:56:56,
Last reviewed on 2020-10-05 17:59:01 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2020-10-05 17:56:56 | The IthaGenes Curation Team | Created |
| 2 | 2020-10-05 17:59:01 | The IthaGenes Curation Team | Reviewed. Comment. |
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IthaGenes was last updated on 2024-11-20 13:24:07