IthaID: 1501
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Indian HPFH-3 | HGVS Name: | NC_000011.10:g.5194459_5244226del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | HPFH |
|---|---|
| Hemoglobinopathy Subgroup: | HPFH |
| Allele Phenotype: | GγAγ(δβ)0 HPFH |
| Associated Phenotypes: | Hb F levels [HP:0011904] [OMIM:141749] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 53390 |
| Size: | 49.768 kb |
| Deletion involves: | δ, β, pseudo β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Indian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint 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
- Schroeder WA, Huisman TH, Sukumaran PK, A second type of hereditary persistence of foetal haemoglobin in India., British journal of haematology, 25(1), 131-5, 1973 PubMed
- Kutlar A, Gardiner MB, Headlee MG, Reese AL, Cleek MP, Nagle S, Sukumaran PK, Huisman TH, Heterogeneity in the molecular basis of three types of hereditary persistence of fetal hemoglobin and the relative synthesis of the G gamma and A gamma types of gamma chain., Biochemical genetics, 22(1), 21-35, 1984 PubMed
- Henthorn PS, Mager DL, Huisman TH, Smithies O, A gene deletion ending within a complex array of repeated sequences 3' to the human beta-globin gene cluster., Proc Natl Acad Sci U S A, 83(14), 5194-8, 1986 PubMed
- Patel S, Dehury S, Purohit P, Meher S, Das K, Inheritance of Hereditary Persistence of Fetal Haemoglobin (HPFH) in a Family of Western Odisha, India., J Clin Diagn Res, 9(9), OD09-10, 2015 PubMed
Created on 2010-06-16 16:13:17,
Last reviewed on 2022-10-14 09:54:30 (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 17:28:32 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2020-01-23 11:31:42 | The IthaGenes Curation Team | Reviewed. Reference added |
| 4 | 2020-07-06 12:50:12 | The IthaGenes Curation Team | Reviewed. HGVS name. chromosome and size corrected. |
| 5 | 2022-10-14 09:51:08 | The IthaGenes Curation Team | Reviewed. Common name and Origin corrected. |
| 6 | 2022-10-14 09:54:30 | The IthaGenes Curation Team | Reviewed. Reference added. |
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IthaGenes was last updated on 2024-11-20 13:24:07