IthaID: 3116
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs1799963 | HGVS Name: | NG_008953.1:g.25313G>A |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GTTCCCAATAAAAGTGACTCTCAGY [A/G] AGCCTCAATGCTCCCAGTGCTATTC (Strand: +)
Comments: This SNP was described in a splenectomized patient with HbH disease and recurrent thromboembolism. It presents a significant risk factor for venous thrombosis.
External Links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | Thromboembolism [HP:0001907] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_008953.1 |
| Locus Location: | 25313 |
| Size: | 1 bp |
| Located at: | F2 |
| Specific Location: | 3'UTR |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Chinese Han |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Sun NA, Cheng P, Deng DH, Liu RR, Lai YR, Analysis of the genetic variants associated with recurrent thromboembolism in a patient with hemoglobin H disease following splenectomy: A case report., Biomed Rep , 5(1), 23-26, 2016
Created on 2016-09-29 18:21:31,
Last reviewed on (Show full history)
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