IthaID: 3551
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | FCGR2C.nc-ORF | HGVS Name: | NG_011982.1:g.[13259C>T;19253A>G] |
Also known as:
Comments: The FCGR2C.nc-ORF variant is a combination of an exon 3 SNP (rs759550223) and a splice site mutation near exon 7 (rs76277413). It was strongly associated with a decreased red blood cell allo-immunization risk among patients with sickle cell disease acquired from the Dutch STAR and the French SCDTRANSFU cohorts. This protective effect was strongest for exposure to antigens other than the immunogenic Rh or K antigens.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | Red blood cell alloimmunisation |
Location
| Chromosome: | 1 |
|---|---|
| Locus: | NG_011982.1 |
| Locus Location: | 13259 or 19253 |
| Size: | 1 bp or 1 bp |
| Located at: | FCGR2C |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | African, Latin-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
- Meinderts SM, Sins JWR, Fijnvandraat K, Nagelkerke SQ, Geissler J, Tanck MW, Bruggeman C, Biemond BJ, Rijneveld AW, Kerkhoffs JH, Pakdaman S, Habibi A, van Bruggen R, Kuijpers TW, Pirenne F, van den Berg TK, Non-classical FCGR2C haplotype is associated with protection from red blood cell allo-immunization in sickle cell disease., Blood , 2017 PubMed
Created on 2019-12-20 14:14:31,
Last reviewed on 2019-12-21 10:39:39 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2019-12-20 14:14:31 | The IthaGenes Curation Team | Created |
| 2 | 2019-12-21 10:39:39 | The IthaGenes Curation Team | Reviewed. HGVS name corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07