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
Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI.
Therefore, IthaGenes has no responsibility over any temporary unavailability of the service.
In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
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. |
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.
IthaGenes was last updated on 2024-12-03 11:48:06