IthaID: 2129
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs708564 | HGVS Name: | NG_023386.1:g.16553C>T |
Context nucleotide sequence:
AAGACTCGCCCAGGCCCATGGGAGT [C/T] GGATGGTGGCCGCACTTGTGGGGCC (Strand: +)
Also known as:
Comments: SNP associated with susceptibility to alloimmunization in individuals with sickle cell disease receiving red blood cell transfusions (n=75).
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: | NG_023386.1 |
| Locus Location: | 16553 |
| Size: | 1 bp |
| Located at: | CD81 |
| Specific Location: | Intron 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Sub-Saharan African |
| 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
- Tatari-Calderone Z, Tamouza R, Le Bouder GP, Dewan R, Luban NL, Lasserre J, Maury J, Lionnet F, Krishnamoorthy R, Girot R, Vukmanovic S, The association of CD81 polymorphisms with alloimmunization in sickle cell disease., Clin. Dev. Immunol. , 2013(65535), 937846, 2013 PubMed
Created on 2013-09-24 13:13:45,
Last reviewed on 2016-09-12 12:50:05 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2013-09-24 13:13:45 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2016-05-25 12:22:18 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2016-09-12 12:50:05 | The IthaGenes Curation Team | Reviewed. Clinical phenotype added. |
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IthaGenes was last updated on 2024-11-20 13:24:07