IthaID: 290
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
---|---|---|---|
Common Name: | Thai | HGVS Name: | N/A |
Hb Name: | N/A | Protein Info: | N/A |
Also known as: 3485 bp deletion
Phenotype
Hemoglobinopathy Group: | Thalassaemia |
---|---|
Hemoglobinopathy Subgroup: | β-thalassaemia |
Allele Phenotype: | β0 |
Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
Chromosome: | 11 |
---|---|
Locus: | NG_000007.3 |
Locus Location: | N/A |
Size: | 3.485 kb |
Deletion involves: | β |
Other details
Type of Mutation: | Deletion |
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Ethnic Origin: | Thai |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Breakpoint Determined: | No |
Sequence Viewer
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Publications / Origin
- Sanguansermsri T, Pape M, Laig M, Hundrieser J, Flatz G, Beta zero-thalassemia in a Thai family is caused by a 3.4 kb deletion including the entire beta-globin gene., Hemoglobin, 14(2), 157-68, 1990 PubMed
- Lynch JR, Brown JM, Best S, Jennings MW, Weatherall DJ, Characterization of the breakpoint of a 3.5-kb deletion of the beta-globin gene., Genomics, 10(2), 509-11, 1991 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2013-10-15 17:28:32 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
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