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 |
|---|---|
| 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) |
|---|---|
| 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
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
Created on 2010-06-16 16:13:17,
Last reviewed on 2020-07-09 10:29:02 (Show full history)
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