IthaID: 2789
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs3074372 | HGVS Name: | NG_023030.1:g.4828_4829insGT |
Context nucleotide sequence:
tgtgtgtgtgtgtgtgtgtgtgtgt [-/GT] tTTCTCTAAAAGTCCTATGGCCAGA (Strand: +)
Also known as:
Comments: The variant is a (GT)n dinucleotide repeat located in the promoter region of the HMOX1 gene. It associated with hospitalization rates for acute chest syndrome in children with sickle cell disease or sickle β0 thalassemia acquired from the Silent Cerebral Infarct Transfusion (SIT) Trial (n=924). The long form (> 25 GT repeats) was found to be linked with increased HbF levels in a SCD cohort from India, but not significantly associated.
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: | Acute chest syndrome |
Location
| Chromosome: | 22 |
|---|---|
| Locus: | NG_023030.1 |
| Locus Location: | 4828 |
| Size: | 2 bp |
| Located at: | HMOX1 |
| Specific Location: | Promoter |
Other details
| Type of Mutation: | Point-Mutation(Insertion) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Northern American, European |
| 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
- Bean CJ, Boulet SL, Ellingsen D, Pyle ME, Barron-Casella EA, Casella JF, Payne AB, Driggers J, Trau HA, Yang G, Jones K, Ofori-Acquah SF, Hooper WC, DeBaun MR, Heme oxygenase-1 gene promoter polymorphism is associated with reduced incidence of acute chest syndrome among children with sickle cell disease., Blood , 120(18), 3822-8, 2012 PubMed
- Hariharan P, Chavan V, Nadkarni A, Significance of heme oxygenase-1(HMOX1) gene on fetal hemoglobin induction in sickle cell anemia patients., Sci Rep, 10(1), 18506, 2020 PubMed
Created on 2016-05-16 16:12:44,
Last reviewed on 2020-11-12 08:56:13 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-05-16 16:12:44 | The IthaGenes Curation Team | Created |
| 2 | 2016-05-16 16:13:51 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2020-11-12 08:56:13 | The IthaGenes Curation Team | Reviewed. Reference added. Comment field updated. |
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IthaGenes was last updated on 2024-11-20 13:24:07