IthaID: 3145
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs1984112 | HGVS Name: | NG_008192.1:g.16417A>G |
Context nucleotide sequence:
TTTACTGAACAGGAAACTGTAGTTA [A/G] GAAGTAAAAATCACAGTGAAAAATT (Strand: +)
Also known as:
Comments: SNP (G allele) associated with a higher level of reticulocyte count in Portuguese (Sub-Saharan African ancestry) and Tunisian children with sickle cell disease (SCD). It showed weak association with vaso-occlusive crisis in the Tunisian SCD cohort.
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: |
Vaso-occlusive crisis Reticulocytosis [HP:0001923] |
Location
| Chromosome: | 7 |
|---|---|
| Locus: | NG_008192.1 |
| Locus Location: | 16417 |
| Size: | 1 bp |
| Located at: | CD36 |
| Specific Location: | Intron 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Tunisian, 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
- Coelho A, Dias A, Morais A, Nunes B, Ferreira E, Picanço I, Faustino P, Lavinha J, Genetic variation in CD36, HBA, NOS3 and VCAM1 is associated with chronic haemolysis level in sickle cell anaemia: a longitudinal study., Eur. J. Haematol. , 92(3), 237-43, 2014 PubMed
- Kalai M, Dridi M, Chaouch L, Moumni I, Ouragini H, Darragi I, Boudrigua I, Chaouachi D, Mellouli F, Bejaoui M, Abbes S, The role of rs1984112_G at CD36 gene in increasing reticulocyte level among sickle cell disease patients., Hematology , 2016 PubMed
Created on 2017-01-23 11:29:08,
Last reviewed on 2019-07-03 15:55:00 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2017-01-23 11:29:08 | The IthaGenes Curation Team | Created |
| 2 | 2017-01-23 11:35:17 | The IthaGenes Curation Team | Reviewed. Origin updated. |
| 3 | 2017-05-02 09:45:10 | The IthaGenes Curation Team | Reviewed. Mutation comment modified. Clinical phenotype added. |
| 4 | 2017-07-19 10:08:55 | The IthaGenes Curation Team | Reviewed. Mutation info section updated. |
| 5 | 2019-07-03 15:55:00 | The IthaGenes Curation Team | Reviewed. Phenotype added. |
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IthaGenes was last updated on 2024-04-24 11:43:02