IthaID: 2154
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | French deletion/insertion | HGVS Name: | NG_000007.3:g.[61399_61400insC; 61402_81144del] |
| Hb Name: | N/A | Protein Info: | deletion of 19734 nts from the δ gene to β gene |
Also known as: French HPFH deletion
Comments: Found in a heterozygous state in a Caucasian male with a normal haematological phenotype. The deletion spans approximately 19743 bp and removes both the β- and δ-globin genes with insertion of a nt C just before the 5'-deletion breakpoint.
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: | 61402 |
| Size: | 19.743 kb |
| Deletion involves: | δ, β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | French |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint 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
- Joly P, Lacan P, Garcia C, Couprie N, Francina A, Identification and molecular characterization of four new large deletions in the beta-globin gene cluster., Blood Cells Mol. Dis. , 43(1), 53-7, 2009 PubMed
Created on 2013-09-28 18:51:42,
Last reviewed on 2019-11-14 10:47:58 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2013-09-28 18:51:42 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2015-12-07 12:23:00 | The IthaGenes Curation Team | Reviewed. Mutation type corrected. Comment added. |
| 4 | 2019-11-14 10:47:58 | The IthaGenes Curation Team | Reviewed. HGVS name and Location corrected. Comment added. |
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IthaGenes was last updated on 2024-11-20 13:24:07