IthaID: 3899
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs3770138 | HGVS Name: | NC_000002.12:g.181461180C>T |
Context nucleotide sequence:
CCCATATGGTATATTCATGCCATAAG [C>T] AGAAGTGAGCCTGCCTGTTTATCTAGA (Strand: +)
Also known as:
Comments: rs3770138-T showed a positive association with overt ischemic stroke in pediatric patients with sickle cell anemia of sub-Saharan African ancestry in Portugal.
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: | Stroke [HP:0001297] [OMIM:601367] |
Location
| Chromosome: | 2 |
|---|---|
| Locus: | NG_050623.1 |
| Locus Location: | 9289 |
| Size: | 1 bp |
| Located at: | ITGA4 |
| Specific Location: | Intron 2 |
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
Publications / Origin
- Silva M, Vargas S, Coelho A, Ferreira E, Mendonça J, Vieira L, Maia R, Dias A, Ferreira T, Morais A, Soares IM, Lavinha J, Silva R, Kjöllerström P, Faustino P, Biomarkers and genetic modulators of cerebral vasculopathy in sub-Saharan ancestry children with sickle cell anemia., Blood Cells Mol Dis, 83(0), 102436, 2020
Created on 2022-03-24 11:37:41,
Last reviewed on 2022-03-24 11:42:08 (Show full history)
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