IthaID: 3640
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs3800569 | HGVS Name: | NC_000007.14:g.138726680C>T |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
ATGCCATTATAGGACCATCTCTTGAA [C>T] GGAGGTGGTAATGTTTCCGACACGAA (Strand: +)
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.
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
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
Created on 2020-10-05 17:56:56,
Last reviewed on 2020-10-05 17:59:01 (Show full history)
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