IthaID: 2943
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs2282786 | HGVS Name: | NG_011441.1:g.93457T>C |
Context nucleotide sequence:
CTGTAACCTTCCCCCAAAAGAGTCA [C/T] ATGCTCTAAGCCCTTTTCTACCACC (Strand: +)
Also known as:
Comments: SNP associated with a lower platelet count in the Kore Association Resource (KARE) project of the Korean Genome Epidemiology Study (KoGES; n=8842). The association was replicated in healthy samples from the Cardio Vascular Disease Association Study (CAVAS) of KoGES (n=3667) and the BioBank Japan cohort (n=23032).
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: | Abnormal platelet count [HP:0011873] |
Location
| Chromosome: | 4 |
|---|---|
| Locus: | NG_011441.1 |
| Locus Location: | 93457 |
| Size: | 1 bp |
| Located at: | EGF |
| Specific Location: | Intron 21 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Korean, Japanese |
| 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
- Kim YK, Oh JH, Kim YJ, Hwang MY, Moon S, Low SK, Takahashi A, Matsuda K, Kubo M, Lee J, Kim BJ, Influence of Genetic Variants in EGF and Other Genes on Hematological Traits in Korean Populations by a Genome-Wide Approach., Biomed Res Int , 2015(0), 914965, 2015 PubMed
Created on 2016-08-09 12:54:19,
Last reviewed on 2019-12-10 10:21:52 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-08-09 12:54:19 | The IthaGenes Curation Team | Created |
| 2 | 2016-09-12 12:52:02 | The IthaGenes Curation Team | Reviewed. Clinical phenotype added. |
| 3 | 2016-09-12 13:02:05 | The IthaGenes Curation Team | Reviewed. Comment updated. |
| 4 | 2019-12-10 10:21:52 | The IthaGenes Curation Team | Reviewed. Comment edits. |
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IthaGenes was last updated on 2024-11-20 13:24:07