IthaID: 2155
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | French West-Indies deletion/insertion | HGVS Name: | NG_000007.3:g.57155_80887delinsCAGCAGGAAAGTGAGAAG |
| Hb Name: | N/A | Protein Info: | deletion of 23728 nts from the δ gene to β gene |
Also known as: French West-Indies HPFH deletion
Comments: Found in a heterozygous state in a female with a normal haematological phenotype. The deletion spans approximately 23730 bp and removes both the β- and δ-globin genes with insertion of 18 nucleotides (CAGCAGGAAAGTGAGAAG) in the deletion junction. Found in combination with HbS in the mother (hence, hemizygous), presenting a very similar hematological phenotype except for the presence of HbS.
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: | 57155 |
| Size: | 23.733 kb |
| Deletion involves: | δ, β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | French West-Indies |
| 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 19:01:08,
Last reviewed on 2019-11-14 11:26:14 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2013-09-28 19:01:08 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2015-12-07 12:25:55 | The IthaGenes Curation Team | Reviewed. Mutation type corrected. Comment added. |
| 4 | 2019-11-14 11:26:14 | 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