IthaID: 3436
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Yugoslavian non-deletional HPFH | HGVS Name: | N/A |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: This condition is characterized by a mild elevation of HbF (~5% in heterozygotes), which is nearly all of the Gγ globin chains. It is associated with a chromosome carrying a Gγ-Gγ-Aγ-globin gene arrangement, in which each of the Gγ genes carries a C>T substitution at position -158 [IthaID: 2127].
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available 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: | N/A |
| Size: | N/A |
| Located at: | Aγ, Gγ |
Other details
| Type of Mutation: | Combination |
|---|---|
| Ethnic Origin: | Yugoslavian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
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
- Efremov GD, Filipce V, Gjorgovski I, Juricic D, Stojanovski N, Harano T, Nakatsuji T, Kutlar A, Kutlar F, Bakioglu I, G gamma A gamma(delta beta)zero-thalassaemia and a new form of gamma globin gene triplication identified in the Yugoslavian population., Br. J. Haematol., 63(1), 17-28, 1986 PubMed
Created on 2019-06-18 14:54:41,
Last reviewed on 2020-06-29 16:41:57 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2019-06-18 14:54:41 | The IthaGenes Curation Team | Created |
| 2 | 2019-06-18 14:55:16 | The IthaGenes Curation Team | Reviewed. Gene added. |
| 3 | 2020-06-29 16:07:19 | The IthaGenes Curation Team | Reviewed. Synonym name added. |
| 4 | 2020-06-29 16:41:57 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-11-20 13:24:07