IthaID: 1564
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
---|---|---|---|
Common Name: | -37 A>T | HGVS Name: | HBG2:c.-90A>T |
Hb Name: | N/A | Protein Info: | N/A |
Also known as: Belgian non-deletional HPFH
Comments: Association with a moderately increased HbF. Associated with the rare codon 91 (+T) δ0-thalassemia.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
Hemoglobinopathy Group: | HPFH |
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Hemoglobinopathy Subgroup: | HPFH |
Allele Phenotype: | HPFH |
Associated Phenotypes: | Hb F levels [HP:0011904] [OMIM:141749] |
Location
Chromosome: | 11 |
---|---|
Locus: | NG_000007.3 |
Locus Location: | 42798 |
Size: | 1 bp |
Located at: | Gγ |
Specific Location: | Promoter |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
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Effect on Gene/Protein Function: | Promoter (Transcription) |
Ethnic Origin: | Dutch, Belgian |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
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
- Bouva MJ, Harteveld CL, Bakker-Verweij G, van Delft P, Giordano PC, Ggamma -37 (A-->T): a new nondeletional hereditary persistence of fetal hemoglobin determinant associated with the rare codon 91 (+T) delta0-thalassemia., Hemoglobin , 30(3), 371-7, 2006 PubMed
Created on 2010-06-16 16:13:17,
Last reviewed on 2020-07-09 10:29:02 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2010-06-16 16:13:17 | The IthaGenes Curation Team | Created |
2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
3 | 2020-07-09 10:29:02 | The IthaGenes Curation Team | Reviewed. dbSNP link added. |
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IthaGenes was last updated on 2024-09-05 13:01:20