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 |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
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.
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
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
Created on 2010-06-16 16:13:17,
Last reviewed on 2015-12-07 15:28:46 (Show full history)
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.