IthaID: 2300
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -197 C>T | HGVS Name: | HBG2:c.-250c>T |
| Hb Name: | N/A | Protein Info: | Gγ nt -197 C>T |
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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: | 42638 |
| 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: | Black African |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Toma S, Tenorio M, Oakley M, Thein SL, Clark BE, Two Novel Mutations (HBG1: c.-250CT and HBG2: c.-250CT) Associated With Hereditary Persistence of Fetal Hemoglobin., Hemoglobin , 2013
Created on 2014-01-08 15:19:10,
Last reviewed on 2014-01-16 12:53:34 (Show full history)
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