IthaID: 3741
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs12275279 | HGVS Name: | NC_000011.10:g.72726251C>A |
Context nucleotide sequence:
TGTTGCCTCTTGATGCCGGCATGGA [C>A] CCCGATACCCTGCAGTATCTCACAG (Strand: +)
Also known as:
Comments: Associated with alloimmune responder status in an African American cohort of multiply transfused sickle cell disease patients.
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: | Red blood cell alloimmunisation |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NM_001040118.3 |
| Locus Location: | N/A |
| Size: | 1 bp |
| Located at: | ARAP1 |
| 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
- Hanchard NA, Moulds JM, Belmont JW, Chen A, A Genome-Wide Screen for Large-Effect Alloimmunization Susceptibility Loci among Red Blood Cell Transfusion Recipients with Sickle Cell Disease., Transfus Med Hemother, 41(6), 453-61, 2014 PubMed
Created on 2021-02-17 15:33:01,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2021-02-17 15:33:01 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-11-20 13:24:07