IthaID: 3638
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs1318772 | HGVS Name: | NG_012265.1:g.105961T>C |
Context nucleotide sequence:
GGGGTATTATGAAAGATCTATGA [T>C] CAACAATTATAAAACAACCATAAT (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: | 5 |
|---|---|
| Locus: | NG_012265.1 |
| Locus Location: | 105961 |
| Size: | 1 bp |
| Located at: | MCC |
| Specific Location: | Intron 1 |
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 15:57:30,
Last reviewed on 2020-10-05 16:00:57 (Show full history)
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