IthaID: 1396
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | N/A | HGVS Name: | NG_000007.3:g.[63249_70661del;63571_70985dup] |
| Hb Name: | Hb Parchman | Protein Info: | δβδ hybrid (δ through 12; β from 22) AND β-δ hybrid (β through 50; δ from 86) |
Also known as: δβδ hybrid
Comments: δβδ hybrid, the result of a double crossover, and could have arisen by gene conversion. δ through codon 12, β from codons 22-50, δ from codon 22.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | δ-chain variant |
| Allele Phenotype: | δβ fusion |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 63249 |
| Size: | 7.41 kb |
| Fusion involves: | δ, β |
Other details
| Type of Mutation: | Fusion |
|---|---|
| Ethnic Origin: | African |
| 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
- Adams JG, Morrison WT, Steinberg MH, Hemoglobin Parchman: double crossover within a single human gene., Science (New York, N.Y.), 218(4569), 291-3, 1982 PubMed
Created on 2010-06-16 16:13:17,
Last reviewed on 2015-12-07 15:28:46 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:17 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-05-02 09:28:11 | The IthaGenes Curation Team | Reviewed. ClinVar link added. |
| 4 | 2015-12-07 15:28:31 | The IthaGenes Curation Team | Reviewed. |
| 5 | 2015-12-07 15:28:46 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-11-20 13:24:07