IthaID: 3647
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs3850229 | HGVS Name: | NC_000006.12:g.147857222G>A |
Context nucleotide sequence:
GTTTGCCTAATAATAATGCAACTATGG [G>A] CCAGGCACAGTGGCTCATGCCTGTAA (Strand: +)
Also known as:
Comments: Reported as a genic downstream transcript variant. Associated with F-cell levels in a pediatric cohort with sickle cell anaemia from the Silent Cerebral Infarct Transfusion (SIT) 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: | 6 |
|---|---|
| Locus: | NM_001030060.3 |
| Locus Location: | N/A |
| Size: | 1 bp |
| Located at: | SAMD5 |
| Specific Location: | N/A |
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 2020-10-06 15:47:09,
Last reviewed on (Show full history)
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