IthaID: 3881
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs3759071 | HGVS Name: | NC_000011.10:g.5270302G>A | NC_000011.10:g.5270302G>T |
Context nucleotide sequence:
TAGGAAAAAAAGTTTCAGCCAAAGC [G>A,T] CATTTAACATTTGCCTTAAAGGTGGT (Strand: +)
Also known as:
Comments: 2KB Upstream Variant - The G allele associated with >30% HbF levels in Kuwaiti patients with sickle cell disease.
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: | Hb F levels [HP:0011904] [OMIM:141749] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | N/A |
| Size: | 1 bp |
| Located at: | ε |
| Specific Location: | N/A |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Kuwaiti |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Akbulut-Jeradi N, Fernandez MJ, Al Khaldi R, Sukumaran J, Adekile A, Unique Polymorphisms at , and Loci Associated with HbF in Kuwaiti Patients with Sickle Cell Disease., J Pers Med, 11(6), , 2021
Created on 2021-12-27 09:14:50,
Last reviewed on 2021-12-27 09:20:40 (Show full history)
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